Variant report

Variant	esv2763869
Chromosome Location	chr1:161478536-161638530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3855)
CpG islands
(count:3968)
Chromatin interactive
region (count:69)
LncRNA
region (count:54)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:161536099-161536207	K562	blood:	n/a	n/a
2	ARID3A	chr1:161582342-161582676	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:161500618-161501088	K562	blood:	n/a	n/a
4	ARID3A	chr1:161591125-161591710	K562	blood:	n/a	n/a
5	ARID3A	chr1:161493454-161493831	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:161591948-161592122	K562	blood:	n/a	n/a
7	ARID3A	chr1:161511855-161512372	K562	blood:	n/a	n/a
8	ARID3A	chr1:161617405-161617638	K562	blood:	n/a	n/a
9	ARID3A	chr1:161500717-161501051	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:161582180-161582720	K562	blood:	n/a	n/a
11	ARID3A	chr1:161593404-161593958	K562	blood:	n/a	n/a
12	ARID3A	chr1:161500058-161500325	K562	blood:	n/a	n/a
13	ARID3A	chr1:161597357-161597431	K562	blood:	n/a	n/a
14	ARID3A	chr1:161609161-161609203	K562	blood:	n/a	n/a
15	ARID3A	chr1:161509546-161510261	K562	blood:	n/a	n/a
16	ARID3A	chr1:161527761-161527959	K562	blood:	n/a	n/a
17	ARID3A	chr1:161612578-161612808	K562	blood:	n/a	n/a
18	ARID3A	chr1:161531330-161531429	K562	blood:	n/a	n/a
19	ARID3A	chr1:161606178-161606335	K562	blood:	n/a	n/a
20	ARID3A	chr1:161510708-161510720	K562	blood:	n/a	n/a
21	ATF1	chr1:161594371-161594727	K562	blood:	n/a	n/a
22	ATF1	chr1:161612496-161612813	K562	blood:	n/a	n/a
23	ATF1	chr1:161582206-161582745	K562	blood:	n/a	n/a
24	ATF1	chr1:161593419-161593796	K562	blood:	n/a	n/a
25	ATF1	chr1:161591904-161592261	K562	blood:	n/a	n/a
26	ATF1	chr1:161608218-161608251	K562	blood:	n/a	n/a
27	ATF1	chr1:161531167-161531417	K562	blood:	n/a	n/a
28	ATF1	chr1:161509795-161510261	K562	blood:	n/a	n/a
29	ATF1	chr1:161536086-161536283	K562	blood:	n/a	n/a
30	ATF1	chr1:161511897-161512367	K562	blood:	n/a	n/a
31	ATF1	chr1:161512919-161513273	K562	blood:	n/a	n/a
32	ATF1	chr1:161500608-161501171	K562	blood:	n/a	n/a
33	ATF1	chr1:161526833-161527000	K562	blood:	n/a	n/a
34	ATF1	chr1:161617495-161617716	K562	blood:	n/a	n/a
35	ATF2	chr1:161582332-161582813	GM12878	blood:	n/a	n/a
36	ATF2	chr1:161500770-161501143	GM12878	blood:	n/a	n/a
37	ATF2	chr1:161509697-161510243	GM12878	blood:	n/a	n/a
38	ATF2	chr1:161509707-161510335	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr1:161509447-161510448	GM12878	blood:	n/a	n/a
40	ATF2	chr1:161511635-161512198	GM12878	blood:	n/a	n/a
41	ATF2	chr1:161493497-161493919	GM12878	blood:	n/a	n/a
42	ATF2	chr1:161511724-161512164	GM12878	blood:	n/a	n/a
43	ATF2	chr1:161500621-161501147	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr1:161499926-161500326	GM12878	blood:	n/a	n/a
45	ATF2	chr1:161591144-161591675	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF2	chr1:161582233-161582722	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr1:161500624-161501245	GM12878	blood:	n/a	n/a
48	ATF2	chr1:161493531-161493936	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr1:161591188-161591748	GM12878	blood:	n/a	n/a
50	ATF2	chr1:161500491-161501145	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3968 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161576956-161577006	GM06990	blood:	n/a
2	chr1:161576580-161576630	HRE	kidney:	n/a
3	chr1:161492666-161492716	HNPCEpiC	eye:	n/a
4	chr1:161576956-161577006	GM06990	blood:	n/a
5	chr1:161576580-161576630	HRE	kidney:	n/a
6	chr1:161492666-161492716	HNPCEpiC	eye:	n/a
7	chr1:161509739-161509789	GM12878	blood:	n/a
8	chr1:161500751-161500801	ProgFib	skin:	n/a
9	chr1:161494852-161494902	Hela-S3	cervix:	n/a
10	chr1:161576629-161576679	HAEpiC	amniotic membrane:	n/a
11	chr1:161510041-161510091	GM19239	blood:	n/a
12	chr1:161591215-161591265	ECC-1	luminal epithelium:	n/a
13	chr1:161581262-161581312	AoSMC	blood vessel:	n/a
14	chr1:161500156-161500206	NHDF-neo	bronchial:	n/a
15	chr1:161582290-161582340	MCF-7	breast:	n/a
16	chr1:161582651-161582701	HepG2	liver:	n/a
17	chr1:161563355-161563405	LNCaP	prostate:	n/a
18	chr1:161563355-161563405	PrEC	prostate:	n/a
19	chr1:161495324-161495374	HRPEpiC	eye:	n/a
20	chr1:161520094-161520144	HEK293	kidney:	embryo
21	chr1:161602002-161602052	GM12878	blood:	n/a
22	chr1:161519989-161520039	MCF10A-Er-Src	breast:	n/a
23	chr1:161519989-161520039	ProgFib	skin:	n/a
24	chr1:161509970-161510020	HCT-116	colon:	n/a
25	chr1:161582376-161582426	HAEpiC	amniotic membrane:	n/a
26	chr1:161600769-161600819	AG09319	gingival:	n/a
27	chr1:161492666-161492716	AG04449	skin:	fetal
28	chr1:161591215-161591265	GM12891	blood:	n/a
29	chr1:161591488-161591538	H1-hESC	embryonic stem cell:	embryo
30	chr1:161510171-161510221	Hela-S3	cervix:	n/a
31	chr1:161591591-161591641	Jurkat	blood:	n/a
32	chr1:161494852-161494902	PrEC	prostate:	n/a
33	chr1:161520094-161520144	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:161591215-161591265	HCPEpiC	choroid plexus:	n/a
35	chr1:161591591-161591641	NB4	blood:	n/a
36	chr1:161493357-161493407	Jurkat	blood:	n/a
37	chr1:161495979-161496029	NB4	blood:	n/a
38	chr1:161493011-161493061	Jurkat	blood:	n/a
39	chr1:161494029-161494079	HRCEpiC	kidney:	n/a
40	chr1:161574664-161574714	GM12878	blood:	n/a
41	chr1:161510171-161510221	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:161575766-161575816	Hela-S3	cervix:	n/a
43	chr1:161501027-161501077	HCF	heart:	n/a
44	chr1:161493011-161493061	HRCEpiC	kidney:	n/a
45	chr1:161494958-161495008	MCF-7	breast:	n/a
46	chr1:161601053-161601103	GM12891	blood:	n/a
47	chr1:161576956-161577006	AG04449	skin:	fetal
48	chr1:161498450-161498500	MCF10A-Er-Src	breast:	n/a
49	chr1:161575324-161575374	PrEC	prostate:	n/a
50	chr1:161500685-161500735	MCF-7	breast:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:161591472..161593367-chr1:161719465..161721558,2	K562	blood:
2	chr1:161479389..161480900-chr1:161482776..161484874,2	K562	blood:
3	chr1:161474651..161476821-chr1:161512297..161514601,2	K562	blood:
4	chr1:161617196..161618017-chr1:161708253..161708755,2	MCF-7	breast:
5	chr1:161616816..161618830-chr1:161691616..161693924,2	MCF-7	breast:
6	chr1:161499216..161504414-chr1:161508501..161513426,10	K562	blood:
7	chr1:161510415..161513451-chr1:161591719..161594596,3	K562	blood:
8	chr1:161574379..161577952-chr1:161581293..161583711,3	K562	blood:
9	chr1:161473313..161475173-chr1:161581113..161582748,2	K562	blood:
10	chr1:161581093..161584001-chr1:161596781..161598662,2	MCF-7	breast:
11	chr1:161499127..161500748-chr1:161691132..161693677,2	K562	blood:
12	chr1:161463651..161465255-chr1:161480977..161482805,2	K562	blood:
13	chr1:161454135..161455032-chr1:161530986..161531581,2	MCF-7	breast:
14	chr1:161536027..161536622-chr1:161617103..161617839,3	MCF-7	breast:
15	chr1:161582246..161584053-chr1:161690317..161692008,2	K562	blood:
16	chr1:161593440..161595997-chr1:161607470..161609029,2	K562	blood:
17	chr1:161501045..161503736-chr1:161579184..161582025,2	K562	blood:
18	chr1:161535342..161537175-chr1:161695826..161698506,2	MCF-7	breast:
19	chr1:161617120..161618031-chr1:161708194..161708800,2	K562	blood:
20	chr1:161490721..161492392-chr1:161500799..161502930,2	K562	blood:
21	chr1:161499168..161500947-chr1:161581835..161583693,2	K562	blood:
22	chr1:161498210..161502566-chr1:161580989..161583713,4	K562	blood:
23	chr1:161467082..161468658-chr1:161499674..161502384,2	K562	blood:
24	chr1:161500645..161502521-chr1:161735306..161737885,2	K562	blood:
25	chr1:161616209..161618831-chr1:161708579..161712751,3	MCF-7	breast:
26	chr1:161616464..161620281-chr1:161694638..161697565,4	MCF-7	breast:
27	chr1:161455961..161458888-chr1:161498513..161500780,2	MCF-7	breast:
28	chr1:161492226..161495204-chr1:161574440..161576470,2	K562	blood:
29	chr1:161476098..161478578-chr1:161492224..161494274,2	K562	blood:
30	chr1:161579696..161583267-chr1:161694412..161698129,4	K562	blood:
31	chr1:161514527..161516065-chr1:161531959..161534021,2	K562	blood:
32	chr1:161501045..161503736-chr1:161579184..161582025,2	K562	blood:
33	chr1:161624063..161625619-chr1:161692402..161694799,2	MCF-7	breast:
34	chr1:161492226..161495204-chr1:161574440..161576470,2	K562	blood:
35	chr1:161501422..161503700-chr1:161507610..161511703,3	K562	blood:
36	chr1:161473850..161477562-chr1:161478106..161481269,5	K562	blood:
37	chr1:161499168..161500947-chr1:161581835..161583693,2	K562	blood:
38	chr1:161591008..161595787-chr1:161695155..161699954,5	K562	blood:
39	chr1:161509609..161513548-chr1:161589499..161593604,6	K562	blood:
40	chr1:161528077..161530889-chr1:161610740..161612765,2	K562	blood:
41	chr1:161622695..161624632-chr1:161694566..161696294,2	MCF-7	breast:
42	chr1:161574946..161575793-chr3:48754108..48754721,2	NB4	blood:
43	chr1:161500737..161501514-chr6:116421902..116422564,2	Hela-S3	cervix:
44	chr1:161492678..161495285-chr1:161498905..161501776,2	K562	blood:
45	chr1:161615855..161618942-chr1:161693041..161695916,3	K562	blood:
46	chr1:161596768..161599031-chr1:161599244..161601046,2	K562	blood:
47	chr1:161492678..161495204-chr1:161499827..161501776,2	K562	blood:
48	chr1:161476098..161478578-chr1:161492224..161494274,2	K562	blood:
49	chr1:161591405..161593904-chr1:161697560..161699954,2	K562	blood:
50	chr1:161473959..161476772-chr1:161499663..161502621,3	K562	blood:

(count:54 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPA6-2	chr1:161574733-161574927	NONHSAT007191
2	lnc-FCGR3A-1	chr1:161507532-161507643	NONHSAT007185
3	lnc-FCGR3B-3	chr1:161526080-161526367	XLOC_001067
4	lnc-FCGR3B-5	chr1:161587782-161587914	NONHSAT007194
5	lnc-HSPA6-2	chr1:161569420-161571010	NR_047648
6	lnc-FCGR3A-2	chr1:161554927-161555705	l_142_chr1:161484980-161544979_76bGuttman_hES
7	lnc-HSPA6-2	chr1:161561940-161562032	NONHSAT007190
8	lnc-FCGR3B-3	chr1:161526695-161526868	XLOC_001067
9	lnc-HSPA6-2	chr1:161569361-161569582	NONHSAT007191
10	lnc-HSPA6-2	chr1:161574733-161575446	NONHSAT007192
11	lnc-FCGR3A-2	chr1:161542635-161542743	l_142_chr1:161484980-161544979_76bGuttman_hES
12	lnc-FCGR3B-1	chr1:161607438-161607725	XLOC_001068
13	lnc-HSPA6-5	chr1:161583096-161584982	NONHSAT007193
14	lnc-HSPA6-2	chr1:161492585-161492889	NONHSAT007175
15	lnc-FCGR3B-5	chr1:161588993-161589092	NONHSAT007194
16	lnc-HSPA6-2	chr1:161559352-161559609	NR_047648
17	lnc-HSPA6-2	chr1:161565343-161565380	NR_047648
18	lnc-FCGR3A-2	chr1:161544958-161545045	l_142_chr1:161484980-161544979_76bGuttman_hES
19	lnc-HSPA6-2	chr1:161484410-161484664	NONHSAT007174
20	lnc-C1orf192-3	chr1:161600845-161600916	NONHSAT007195
21	lnc-HSPA6-2	chr1:161558212-161558232	NONHSAT007188
22	lnc-HSPA6-2	chr1:161558212-161558232	NR_047648
23	lnc-HSPA6-2	chr1:161551129-161551339	NONHSAT007188
24	lnc-HSPA6-1	chr1:161496964-161497073	NONHSAT007178
25	lnc-FCGR3B-5	chr1:161589171-161589375	NONHSAT007194
26	lnc-FCGR3A-2	chr1:161484981-161485120	l_142_chr1:161484980-161544979_76bGuttman_hES
27	lnc-HSPA6-2	chr1:161561919-161562032	NR_047648
28	lnc-FCGR3A-1	chr1:161507705-161507948	NONHSAT007185
29	lnc-HSPA6-2	chr1:161551129-161551339	NR_047648
30	lnc-HSPA6-2	chr1:161487765-161488393	NONHSAT007174
31	lnc-FCGR3A-2	chr1:161558036-161558190	l_142_chr1:161484980-161544979_76bGuttman_hES
32	lnc-HSPA6-2	chr1:161489592-161489781	NONHSAT007175
33	lnc-HSPA6-2	chr1:161560934-161561188	NR_047648
34	lnc-HSPA6-2	chr1:161574733-161574889	ENSG00000273112.1
35	lnc-HSPA6-2	chr1:161559355-161559676	NONHSAT007188
36	lnc-HSPA6-2	chr1:161574733-161575452	NONHSAT007190
37	lnc-HSPA6-2	chr1:161571030-161571154	NONHSAT007190
38	lnc-HSPA6-2	chr1:161487765-161487927	NONHSAT007175
39	lnc-FCGR3A-1	chr1:161506361-161506490	NONHSAT007185
40	lnc-HSPA6-2	chr1:161483688-161483722	NONHSAT007173
41	lnc-FCGR3B-1	chr1:161608045-161608218	XLOC_001068
42	lnc-HSPA6-2	chr1:161571030-161571154	ENSG00000273112.1
43	lnc-HSPA6-2	chr1:161483685-161483722	ENSG00000273112.1
44	lnc-FCRLA-1	chr1:161632989-161633143	NONHSAT007197
45	lnc-HSPA6-1	chr1:161496264-161496622	NONHSAT007178
46	lnc-HSPA6-2	chr1:161571030-161571154	NONHSAT007191
47	lnc-HSPA6-2	chr1:161571027-161571154	NONHSAT007192
48	lnc-HSPA6-2	chr1:161489697-161489757	NONHSAT007173
49	lnc-HSPA6-2	chr1:161482966-161483035	ENSG00000273112.1
50	lnc-HSPA6-2	chr1:161487765-161487927	NONHSAT007173

No data

Variant related genes	Relation type
FCGR2C	TF binding region
HSPA6	TF binding region
FCGR3B	TF binding region
RPS23P10	TF binding region
FCGR3A	TF binding region
FCGR2A	TF binding region
HSPA7	TF binding region
FCGR2B	TF binding region
ENSG00000273112	TF binding region
ENSG00000224515	TF binding region
RPS23P9	TF binding region
FCGR2C	CpG island
HSPA6	CpG island
FCGR3B	CpG island
RPS23P10	CpG island
FCGR3A	CpG island
FCGR2A	CpG island
HSPA7	CpG island
FCGR2B	CpG island
ENSG00000273112	CpG island
ENSG00000224515	CpG island
RPS23P9	CpG island
ENSG00000203747	chromatin interactions
ENSG00000226889	chromatin interactions
ENSG00000162747	chromatin interactions
ENSG00000081721	chromatin interactions
ENSG00000143226	chromatin interactions
ENSG00000273112	chromatin interactions
ENSG00000173110	chromatin interactions
ENSG00000068745	chromatin interactions
ENSG00000178425	chromatin interactions
ENSG00000225217	chromatin interactions
ENSG00000224203	chromatin interactions
ENSG00000162746	chromatin interactions
ENSG00000118217	chromatin interactions

Extended variants
information (count: 6584 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:6584 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547617804	chr1:161478566-161478567	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570652079	chr1:161478620-161478621	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539975192	chr1:161478688-161478689	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6671753	chr1:161478708-161478709	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs12092751	chr1:161478735-161478736	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4656308	chr1:161478751-161478752	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs375491014	chr1:161478768-161478769	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147524246	chr1:161478774-161478775	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4656309	chr1:161478790-161478791	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11464104	chr1:161478793-161478794	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6671847	chr1:161478810-161478811	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577799466	chr1:161478826-161478827	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4657041	chr1:161478859-161478860	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562215591	chr1:161478866-161478867	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536717435	chr1:161478882-161478883	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575642071	chr1:161478910-161478911	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182323324	chr1:161478932-161478933	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561525211	chr1:161478940-161478941	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183726856	chr1:161478943-161478944	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs60822881	chr1:161479020-161479021	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564302986	chr1:161479030-161479031	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533135539	chr1:161479076-161479077	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369845884	chr1:161479131-161479132	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374002225	chr1:161479132-161479133	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs397862781	chr1:161479133-161479134	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57697282	chr1:161479144-161479145	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556544883	chr1:161479146-161479147	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550315909	chr1:161479167-161479168	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570121947	chr1:161479204-161479205	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535481469	chr1:161479268-161479269	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549403123	chr1:161479271-161479272	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565923415	chr1:161479288-161479289	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112436033	chr1:161479304-161479305	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529821848	chr1:161479314-161479315	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558005507	chr1:161479331-161479332	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7529225	chr1:161479352-161479353	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs537212935	chr1:161479388-161479389	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188147077	chr1:161479436-161479437	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7552317	chr1:161479438-161479439	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs181330030	chr1:161479490-161479491	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561759097	chr1:161479525-161479526	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571927874	chr1:161479526-161479527	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541361041	chr1:161479530-161479531	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs56036159	chr1:161479539-161479540	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533173478	chr1:161479550-161479551	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373950032	chr1:161479570-161479571	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7529425	chr1:161479599-161479600	Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs371752364	chr1:161479615-161479616	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs199737051	chr1:161479619-161479620	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs141572415	chr1:161479638-161479639	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
Coronary artery disease	20973705	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Autoimmune disease	17529978	CNVD
Rheumatoid arthritis	20957197	CNVD
Systemic lupus erythematosus	17529978	CNVD
Wegener''s granulomatosis	17529978	CNVD
Autoimmune disease	22337955	CNVD
Systemic lupus erythematosus	0	CNVD

Chromatin state (count:2405 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161476200-161482400	Weak transcription	Colonic Mucosa	Colon
2	chr1:161476600-161480200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:161476600-161480400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:161476600-161481600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:161476800-161480400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:161476800-161483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:161477000-161480200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
8	chr1:161477000-161480200	Weak transcription	Lung	lung
9	chr1:161477000-161480400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:161477000-161480600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:161477000-161481600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:161477000-161482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:161477000-161482400	Weak transcription	Hela-S3	cervix
14	chr1:161477000-161482400	Weak transcription	Osteobl	bone
15	chr1:161477200-161479400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
16	chr1:161477200-161480200	Weak transcription	Fetal Lung	lung
17	chr1:161477200-161480800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:161477200-161482600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:161477400-161478600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:161477400-161479600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:161477400-161479600	Weak transcription	Spleen	Spleen
22	chr1:161477400-161480400	Weak transcription	Placenta	Placenta
23	chr1:161477400-161480600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:161477400-161481000	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:161477400-161481000	Weak transcription	Fetal Stomach	stomach
26	chr1:161477400-161482200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:161477400-161482400	Weak transcription	HepG2	liver
28	chr1:161477400-161482600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:161477400-161482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:161477400-161488200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:161477600-161479800	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:161477600-161493600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:161477800-161478800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:161478200-161480400	Weak transcription	Primary B cells from cord blood	blood
35	chr1:161478200-161481400	Genic enhancers	K562	blood
36	chr1:161478600-161479000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:161478800-161479400	Active TSS	Primary hematopoietic stem cells	blood
38	chr1:161479000-161481000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:161479400-161482800	Genic enhancers	Monocytes-CD14+_RO01746	blood
40	chr1:161479600-161481800	Genic enhancers	Spleen	Spleen
41	chr1:161479600-161483000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:161479800-161480800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:161480200-161480800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:161480200-161481000	Enhancers	Lung	lung
45	chr1:161480200-161481400	Enhancers	Fetal Lung	lung
46	chr1:161480200-161481600	Enhancers	Gastric	stomach
47	chr1:161480200-161482800	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:161480400-161480600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:161480400-161480800	Enhancers	Primary B cells from cord blood	blood
50	chr1:161480400-161481000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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