Variant report

Variant	esv2750812
Chromosome Location	chr1:161463498-161639559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4202)
CpG islands
(count:4335)
Chromatin interactive
region (count:94)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4202 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:161612578-161612808	K562	blood:	n/a	n/a
2	ARID3A	chr1:161617405-161617638	K562	blood:	n/a	n/a
3	ARID3A	chr1:161527761-161527959	K562	blood:	n/a	n/a
4	ARID3A	chr1:161474223-161474492	K562	blood:	n/a	n/a
5	ARID3A	chr1:161500618-161501088	K562	blood:	n/a	n/a
6	ARID3A	chr1:161509546-161510261	K562	blood:	n/a	n/a
7	ARID3A	chr1:161510708-161510720	K562	blood:	n/a	n/a
8	ARID3A	chr1:161582342-161582676	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:161582180-161582720	K562	blood:	n/a	n/a
10	ARID3A	chr1:161476428-161477054	K562	blood:	n/a	n/a
11	ARID3A	chr1:161593404-161593958	K562	blood:	n/a	n/a
12	ARID3A	chr1:161531330-161531429	K562	blood:	n/a	n/a
13	ARID3A	chr1:161591125-161591710	K562	blood:	n/a	n/a
14	ARID3A	chr1:161609161-161609203	K562	blood:	n/a	n/a
15	ARID3A	chr1:161472641-161473201	K562	blood:	n/a	n/a
16	ARID3A	chr1:161606178-161606335	K562	blood:	n/a	n/a
17	ARID3A	chr1:161597357-161597431	K562	blood:	n/a	n/a
18	ARID3A	chr1:161500058-161500325	K562	blood:	n/a	n/a
19	ARID3A	chr1:161591948-161592122	K562	blood:	n/a	n/a
20	ARID3A	chr1:161474978-161475366	K562	blood:	n/a	n/a
21	ARID3A	chr1:161511855-161512372	K562	blood:	n/a	n/a
22	ARID3A	chr1:161500717-161501051	HepG2	liver:	n/a	n/a
23	ARID3A	chr1:161536099-161536207	K562	blood:	n/a	n/a
24	ARID3A	chr1:161493454-161493831	HepG2	liver:	n/a	n/a
25	ATF1	chr1:161591904-161592261	K562	blood:	n/a	n/a
26	ATF1	chr1:161531167-161531417	K562	blood:	n/a	n/a
27	ATF1	chr1:161509795-161510261	K562	blood:	n/a	n/a
28	ATF1	chr1:161608218-161608251	K562	blood:	n/a	n/a
29	ATF1	chr1:161472813-161473235	K562	blood:	n/a	n/a
30	ATF1	chr1:161512919-161513273	K562	blood:	n/a	n/a
31	ATF1	chr1:161536086-161536283	K562	blood:	n/a	n/a
32	ATF1	chr1:161464169-161464452	K562	blood:	n/a	n/a
33	ATF1	chr1:161612496-161612813	K562	blood:	n/a	n/a
34	ATF1	chr1:161594371-161594727	K562	blood:	n/a	n/a
35	ATF1	chr1:161511897-161512367	K562	blood:	n/a	n/a
36	ATF1	chr1:161582206-161582745	K562	blood:	n/a	n/a
37	ATF1	chr1:161500608-161501171	K562	blood:	n/a	n/a
38	ATF1	chr1:161617495-161617716	K562	blood:	n/a	n/a
39	ATF1	chr1:161593419-161593796	K562	blood:	n/a	n/a
40	ATF1	chr1:161474900-161475448	K562	blood:	n/a	n/a
41	ATF1	chr1:161526833-161527000	K562	blood:	n/a	n/a
42	ATF2	chr1:161593086-161593555	GM12878	blood:	n/a	n/a
43	ATF2	chr1:161582332-161582813	GM12878	blood:	n/a	n/a
44	ATF2	chr1:161509447-161510448	GM12878	blood:	n/a	n/a
45	ATF2	chr1:161469367-161469852	GM12878	blood:	n/a	n/a
46	ATF2	chr1:161493497-161493919	GM12878	blood:	n/a	n/a
47	ATF2	chr1:161591168-161591695	GM12878	blood:	n/a	n/a
48	ATF2	chr1:161593188-161593502	GM12878	blood:	n/a	n/a
49	ATF2	chr1:161476344-161476795	GM12878	blood:	n/a	n/a
50	ATF2	chr1:161591091-161591655	H1-hESC	embryonic stem cell:	n/a	n/a

(count:4335 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161600769-161600819	GM12891	blood:	n/a
2	chr1:161563355-161563405	K562	blood:	n/a
3	chr1:161493011-161493061	SAEC	small airway:	n/a
4	chr1:161491715-161491765	K562	blood:	n/a
5	chr1:161600769-161600819	GM12891	blood:	n/a
6	chr1:161563355-161563405	K562	blood:	n/a
7	chr1:161493011-161493061	SAEC	small airway:	n/a
8	chr1:161491715-161491765	K562	blood:	n/a
9	chr1:161474976-161475026	AG09309	skin:	n/a
10	chr1:161495979-161496029	HCF	heart:	n/a
11	chr1:161510194-161510244	Hepatocyte	liver:	n/a
12	chr1:161500156-161500206	AG04450	lung:	fetal
13	chr1:161520094-161520144	GM06990	blood:	n/a
14	chr1:161493932-161493982	HRPEpiC	eye:	n/a
15	chr1:161601721-161601771	SKMC	muscle:	n/a
16	chr1:161575766-161575816	BE2_C	brain:	n/a
17	chr1:161500610-161500660	ECC-1	luminal epithelium:	n/a
18	chr1:161519396-161519446	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:161575716-161575766	HNPCEpiC	eye:	n/a
20	chr1:161519989-161520039	MCF-7	breast:	n/a
21	chr1:161494958-161495008	NH-A	brain:	n/a
22	chr1:161500441-161500491	H1-hESC	embryonic stem cell:	embryo
23	chr1:161575319-161575369	MCF10A-Er-Src	breast:	n/a
24	chr1:161500751-161500801	Hepatocyte	liver:	n/a
25	chr1:161475240-161475290	ProgFib	skin:	n/a
26	chr1:161494110-161494160	GM12878	blood:	n/a
27	chr1:161602335-161602385	MCF10A-Er-Src	breast:	n/a
28	chr1:161492997-161493047	HCPEpiC	choroid plexus:	n/a
29	chr1:161575766-161575816	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:161582376-161582426	HCM	heart:	n/a
31	chr1:161575766-161575816	AG10803	skin:	n/a
32	chr1:161520972-161521022	U87	brain:	n/a
33	chr1:161575324-161575374	HL-60	blood:	n/a
34	chr1:161496726-161496776	BE2_C	brain:	n/a
35	chr1:161576956-161577006	GM06990	blood:	n/a
36	chr1:161519396-161519446	ECC-1	luminal epithelium:	n/a
37	chr1:161510020-161510070	HCPEpiC	choroid plexus:	n/a
38	chr1:161519989-161520039	SAEC	small airway:	n/a
39	chr1:161494958-161495008	AG04450	lung:	fetal
40	chr1:161493932-161493982	BJ	skin:	n/a
41	chr1:161492666-161492716	HCF	heart:	n/a
42	chr1:161575766-161575816	SK-N-SH_RA	brain:	n/a
43	chr1:161493932-161493982	CMK	blood:	n/a
44	chr1:161576580-161576630	BE2_C	brain:	n/a
45	chr1:161574664-161574714	ProgFib	skin:	n/a
46	chr1:161510020-161510070	NH-A	brain:	n/a
47	chr1:161493932-161493982	NB4	blood:	n/a
48	chr1:161520972-161521022	HCM	heart:	n/a
49	chr1:161600769-161600819	GM06990	blood:	n/a
50	chr1:161591659-161591709	Hepatocyte	liver:	n/a

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:161617105..161617670-chr1:161711057..161711617,2	MCF-7	breast:
2	chr1:161492226..161495204-chr1:161574440..161576470,2	K562	blood:
3	chr1:161615855..161618942-chr1:161693041..161695916,3	K562	blood:
4	chr1:161473313..161475173-chr1:161581113..161582748,2	K562	blood:
5	chr1:161624063..161625619-chr1:161692402..161694799,2	MCF-7	breast:
6	chr1:161467823..161469701-chr1:161492115..161494203,2	K562	blood:
7	chr1:161463651..161465255-chr1:161480977..161482805,2	K562	blood:
8	chr1:161499216..161504414-chr1:161508501..161513426,10	K562	blood:
9	chr1:161461381..161463283-chr1:161471737..161473755,3	K562	blood:
10	chr1:161536027..161536622-chr1:161617103..161617839,3	MCF-7	breast:
11	chr1:161557663..161559310-chr1:161591501..161593148,2	K562	blood:
12	chr1:161498210..161502566-chr1:161580989..161583713,4	K562	blood:
13	chr1:161501045..161503736-chr1:161579184..161582025,2	K562	blood:
14	chr1:161474651..161476821-chr1:161512297..161514601,2	K562	blood:
15	chr1:161528077..161530889-chr1:161610740..161612765,2	K562	blood:
16	chr1:161467199..161467983-chr21:43785493..43786277,2	MCF-7	breast:
17	chr1:161441922..161445226-chr1:161466780..161470505,3	K562	blood:
18	chr1:161463735..161467161-chr1:161469727..161472707,3	K562	blood:
19	chr1:161509609..161513548-chr1:161589499..161593604,6	K562	blood:
20	chr1:161499216..161504414-chr1:161508501..161513426,10	K562	blood:
21	chr1:161510415..161513451-chr1:161591719..161594596,3	K562	blood:
22	chr1:161528077..161530889-chr1:161610740..161612765,2	K562	blood:
23	chr1:161455941..161458630-chr1:161472822..161475115,2	K562	blood:
24	chr1:161591008..161595787-chr1:161695155..161699954,5	K562	blood:
25	chr1:161616209..161618831-chr1:161708579..161712751,3	MCF-7	breast:
26	chr1:161574379..161577952-chr1:161581293..161583711,3	K562	blood:
27	chr1:161501045..161503736-chr1:161579184..161582025,2	K562	blood:
28	chr1:161596768..161599031-chr1:161599244..161601046,2	K562	blood:
29	chr1:161461381..161462890-chr1:161471737..161473755,2	K562	blood:
30	chr1:161593440..161595997-chr1:161607470..161609029,2	K562	blood:
31	chr1:161467205..161469170-chr1:161473282..161475208,2	MCF-7	breast:
32	chr1:161514527..161516065-chr1:161531959..161534021,2	K562	blood:
33	chr1:161501422..161503700-chr1:161507610..161511703,3	K562	blood:
34	chr1:161455961..161458888-chr1:161498513..161500780,2	MCF-7	breast:
35	chr1:161470558..161474477-chr1:161475339..161478073,3	MCF-7	breast:
36	chr1:161463651..161465255-chr1:161480977..161482805,2	K562	blood:
37	chr1:161581093..161584001-chr1:161596781..161598662,2	MCF-7	breast:
38	chr1:161467082..161468658-chr1:161499674..161502384,2	K562	blood:
39	chr1:161617196..161618017-chr1:161708253..161708755,2	MCF-7	breast:
40	chr1:161492678..161495285-chr1:161498905..161501776,2	K562	blood:
41	chr1:161499168..161500947-chr1:161581835..161583693,2	K562	blood:
42	chr1:161581093..161584001-chr1:161596781..161598662,2	MCF-7	breast:
43	chr1:161616816..161618830-chr1:161691616..161693924,2	MCF-7	breast:
44	chr1:161500737..161501514-chr6:116421902..116422564,2	Hela-S3	cervix:
45	chr1:161461950..161465186-chr1:161466189..161468488,5	K562	blood:
46	chr1:161514527..161516065-chr1:161531959..161534021,2	K562	blood:
47	chr1:161490721..161492392-chr1:161500799..161502930,2	K562	blood:
48	chr1:161535342..161537175-chr1:161695826..161698506,2	MCF-7	breast:
49	chr1:161467082..161468658-chr1:161499674..161502384,2	K562	blood:
50	chr1:161622695..161624632-chr1:161694566..161696294,2	MCF-7	breast:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FCGR3A-2	chr1:161554927-161555705	l_142_chr1:161484980-161544979_76bGuttman_hES
2	lnc-FCGR3A-1	chr1:161507532-161507643	NONHSAT007185
3	lnc-HSPA6-2	chr1:161569420-161569582	NONHSAT007190
4	lnc-HSPA6-2	chr1:161551129-161551339	NR_047648
5	lnc-C1orf192-3	chr1:161600845-161600916	NONHSAT007195
6	lnc-HSPA6-2	chr1:161558212-161558232	NR_047648
7	lnc-HSPA6-3	chr1:161475777-161476239	NONHSAT007172
8	lnc-FCGR3B-5	chr1:161589171-161589375	NONHSAT007194
9	lnc-HSPA6-1	chr1:161496964-161497073	NONHSAT007178
10	lnc-HSPA6-2	chr1:161571030-161571154	ENSG00000273112.1
11	lnc-FCRLA-1	chr1:161632989-161633143	NONHSAT007197
12	lnc-HSPA6-3	chr1:161475243-161475797	NONHSAT007171
13	lnc-HSPA6-2	chr1:161487765-161487927	ENSG00000273112.1
14	lnc-HSPA6-2	chr1:161569361-161569582	NONHSAT007191
15	lnc-HSPA6-2	chr1:161560934-161561188	NR_047648
16	lnc-FCGR3B-3	chr1:161526080-161526367	XLOC_001067
17	lnc-HSPA6-2	chr1:161483685-161483722	ENSG00000273112.1
18	lnc-HSPA6-2	chr1:161492585-161492889	NONHSAT007175
19	lnc-HSPA6-2	chr1:161574733-161575446	NONHSAT007192
20	lnc-FCGR3A-1	chr1:161506361-161506490	NONHSAT007185
21	lnc-HSPA6-2	chr1:161561940-161562032	NONHSAT007190
22	lnc-HSPA6-2	chr1:161484410-161484664	NONHSAT007174
23	lnc-HSPA6-3	chr1:161475249-161475342	NONHSAT007172
24	lnc-HSPA6-2	chr1:161574733-161574927	NONHSAT007191
25	lnc-HSPA6-2	chr1:161489697-161489757	NONHSAT007173
26	lnc-HSPA6-2	chr1:161571030-161571154	NONHSAT007190
27	lnc-HSPA6-2	chr1:161571030-161571154	NONHSAT007191
28	lnc-HSPA6-2	chr1:161559352-161559609	NR_047648
29	lnc-HSPA6-3	chr1:161476127-161476158	NONHSAT007171
30	lnc-HSPA6-2	chr1:161558212-161558232	NONHSAT007188
31	lnc-C1orf192-3	chr1:161599680-161600178	NONHSAT007195
32	lnc-FCGR3B-5	chr1:161588993-161589092	NONHSAT007194
33	lnc-HSPA6-2	chr1:161574733-161575452	NONHSAT007190
34	lnc-FCGR3A-2	chr1:161542635-161542743	l_142_chr1:161484980-161544979_76bGuttman_hES
35	lnc-HSPA6-2	chr1:161571027-161571154	NONHSAT007192
36	lnc-HSPA6-2	chr1:161569420-161571010	NR_047648
37	lnc-HSPA6-2	chr1:161483688-161483722	NONHSAT007173
38	lnc-FCGR3A-1	chr1:161507705-161507948	NONHSAT007185
39	lnc-HSPA6-2	chr1:161561919-161562032	NR_047648
40	lnc-HSPA6-2	chr1:161489592-161489781	NONHSAT007175
41	lnc-FCGR3B-1	chr1:161607438-161607725	XLOC_001068
42	lnc-HSPA6-2	chr1:161559355-161559676	NONHSAT007188
43	lnc-FCGR3B-1	chr1:161608045-161608218	XLOC_001068
44	lnc-HSPA6-2	chr1:161565343-161565380	NR_047648
45	lnc-FCGR3A-2	chr1:161558036-161558190	l_142_chr1:161484980-161544979_76bGuttman_hES
46	lnc-FCGR3B-3	chr1:161526695-161526868	XLOC_001067
47	lnc-FCGR3B-5	chr1:161587782-161587914	NONHSAT007194
48	lnc-HSPA6-5	chr1:161583096-161584982	NONHSAT007193
49	lnc-HSPA6-2	chr1:161489379-161489450	NONHSAT007175
50	lnc-HSPA6-1	chr1:161496264-161496622	NONHSAT007178

No data

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

Extended variants
information (count: 7171 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:7171 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6427595	chr1:161463498-161463499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184200935	chr1:161463525-161463526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7535475	chr1:161463587-161463588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
4	rs568714602	chr1:161463599-161463600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7512140	chr1:161463601-161463602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs367587382	chr1:161463642-161463643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189907188	chr1:161463652-161463653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181228285	chr1:161463666-161463667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6694268	chr1:161463757-161463758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548893831	chr1:161463766-161463767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557058551	chr1:161463773-161463774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73026036	chr1:161463776-161463777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111642249	chr1:161463789-161463790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6696854	chr1:161463814-161463815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs187092118	chr1:161463825-161463826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539855812	chr1:161463865-161463866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10494359	chr1:161463876-161463877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs558359538	chr1:161463882-161463883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568867363	chr1:161463883-161463884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71639068	chr1:161463885-161463886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150629305	chr1:161463909-161463910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115944227	chr1:161463936-161463937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144234469	chr1:161463941-161463942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540045051	chr1:161463971-161463972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190633753	chr1:161464002-161464003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182060250	chr1:161464021-161464022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546316134	chr1:161464038-161464039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186475361	chr1:161464103-161464104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372907824	chr1:161464111-161464112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531753678	chr1:161464140-161464141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560714153	chr1:161464183-161464184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541825776	chr1:161464193-161464194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562377879	chr1:161464314-161464315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527942413	chr1:161464369-161464370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113818760	chr1:161464401-161464402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6684851	chr1:161464412-161464413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533346416	chr1:161464436-161464437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552276462	chr1:161464449-161464450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182929750	chr1:161464484-161464485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6684960	chr1:161464493-161464494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567445427	chr1:161464531-161464532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568015174	chr1:161464571-161464572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371941185	chr1:161464587-161464588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553636766	chr1:161464620-161464621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115830738	chr1:161464644-161464645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112683495	chr1:161464706-161464707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545653593	chr1:161464715-161464716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112835348	chr1:161464781-161464782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575953236	chr1:161464785-161464786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201804211	chr1:161464809-161464810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Coronary artery disease	20973705	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Non-syndromic sensorineural hearing loss	21293372	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:2610 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161460400-161465200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:161460600-161465800	Enhancers	K562	blood
3	chr1:161461800-161464400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:161462000-161464200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr1:161462200-161464400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:161462400-161463600	Enhancers	Brain Angular Gyrus	brain
7	chr1:161462400-161467800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:161462600-161464000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:161462600-161464400	Enhancers	Brain Anterior Caudate	brain
10	chr1:161462800-161465000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:161463400-161464600	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:161464000-161464200	Enhancers	Brain Substantia Nigra	brain
13	chr1:161464400-161467200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:161464600-161468400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:161465000-161466000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:161465200-161466600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:161465800-161468600	Weak transcription	K562	blood
18	chr1:161466000-161467600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:161466600-161471400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:161467000-161467800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:161467200-161467400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:161467200-161468600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:161467600-161469000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:161467800-161469000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:161467800-161471600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:161467800-161471600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:161468200-161469200	Enhancers	Brain Anterior Caudate	brain
28	chr1:161468400-161468600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr1:161468400-161468600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:161468400-161469000	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:161468400-161469000	Enhancers	Brain Hippocampus Middle	brain
32	chr1:161468400-161469200	Enhancers	Brain Substantia Nigra	brain
33	chr1:161468400-161469200	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:161468600-161468800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:161468600-161469400	Enhancers	GM12878-XiMat	blood
36	chr1:161468600-161469600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:161468600-161470200	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:161468600-161472400	Enhancers	K562	blood
39	chr1:161469000-161469200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:161469000-161469600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:161469000-161469600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:161469000-161469800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:161469000-161469800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:161469000-161470200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr1:161469200-161469400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:161469200-161469400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr1:161469200-161469600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:161469200-161469600	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr1:161469200-161469800	Enhancers	Primary B cells from peripheral blood	blood
50	chr1:161469200-161470600	Enhancers	HUVEC	blood vessel

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