Variant report

Variant	nsv1005372
Chromosome Location	chr1:161592851-161650609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:688)
CpG islands
(count:489)
Chromatin interactive
region (count:31)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:161606178-161606335	K562	blood:	n/a	n/a
2	ARID3A	chr1:161597357-161597431	K562	blood:	n/a	n/a
3	ARID3A	chr1:161609161-161609203	K562	blood:	n/a	n/a
4	ARID3A	chr1:161617405-161617638	K562	blood:	n/a	n/a
5	ARID3A	chr1:161593404-161593958	K562	blood:	n/a	n/a
6	ARID3A	chr1:161612578-161612808	K562	blood:	n/a	n/a
7	ATF1	chr1:161617495-161617716	K562	blood:	n/a	n/a
8	ATF1	chr1:161594371-161594727	K562	blood:	n/a	n/a
9	ATF1	chr1:161593419-161593796	K562	blood:	n/a	n/a
10	ATF1	chr1:161608218-161608251	K562	blood:	n/a	n/a
11	ATF1	chr1:161612496-161612813	K562	blood:	n/a	n/a
12	ATF2	chr1:161593086-161593555	GM12878	blood:	n/a	n/a
13	ATF2	chr1:161593188-161593502	GM12878	blood:	n/a	n/a
14	BATF	chr1:161632780-161633280	GM12878	blood:	n/a	n/a
15	BATF	chr1:161641596-161641847	GM12878	blood:	n/a	chr1:161641739-161641750
16	BATF	chr1:161617320-161617519	GM12878	blood:	n/a	n/a
17	BATF	chr1:161606148-161606619	GM12878	blood:	n/a	n/a
18	BATF	chr1:161593134-161593671	GM12878	blood:	n/a	n/a
19	BATF	chr1:161632500-161632938	GM12878	blood:	n/a	n/a
20	BATF	chr1:161623197-161623490	GM12878	blood:	n/a	chr1:161623329-161623340
21	BATF	chr1:161613710-161613967	GM12878	blood:	n/a	n/a
22	BATF	chr1:161593162-161593543	GM12878	blood:	n/a	n/a
23	BATF	chr1:161605974-161606706	GM12878	blood:	n/a	n/a
24	BATF	chr1:161629972-161630312	GM12878	blood:	n/a	chr1:161630148-161630159
25	BATF	chr1:161623225-161623407	GM12878	blood:	n/a	chr1:161623329-161623340
26	BATF	chr1:161631862-161632140	GM12878	blood:	n/a	n/a
27	BATF	chr1:161628390-161628591	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:161632778-161633189	GM12878	blood:	n/a	chr1:161632917-161632926
29	BCL11A	chr1:161628361-161628646	GM12878	blood:	n/a	chr1:161628596-161628605
30	BCL11A	chr1:161631882-161632048	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:161593231-161593523	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:161630062-161630293	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:161632564-161633286	GM12878	blood:	n/a	chr1:161632917-161632926
34	BCL11A	chr1:161593141-161593567	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:161628378-161628677	GM12878	blood:	n/a	chr1:161628596-161628605
36	BCL11A	chr1:161606189-161606655	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:161606393-161606543	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:161629970-161630202	GM12878	blood:	n/a	n/a
39	BHLHE40	chr1:161617509-161617683	K562	blood:	n/a	n/a
40	BHLHE40	chr1:161617481-161617615	GM12878	blood:	n/a	n/a
41	CBX3	chr1:161594217-161594793	K562	blood:	n/a	n/a
42	CBX3	chr1:161607955-161608532	K562	blood:	n/a	n/a
43	CBX3	chr1:161592912-161593913	K562	blood:	n/a	n/a
44	CBX3	chr1:161641185-161641529	K562	blood:	n/a	n/a
45	CBX3	chr1:161617335-161617953	K562	blood:	n/a	n/a
46	CCNT2	chr1:161606173-161606334	K562	blood:	n/a	n/a
47	CCNT2	chr1:161593277-161593477	K562	blood:	n/a	n/a
48	CEBPB	chr1:161599250-161599392	K562	blood:	n/a	chr1:161599340-161599353 chr1:161599340-161599353 chr1:161599340-161599351 chr1:161599342-161599351 chr1:161599340-161599353 chr1:161599342-161599351 chr1:161599342-161599351 chr1:161599340-161599351 chr1:161599342-161599351
49	CEBPB	chr1:161634589-161634935	K562	blood:	n/a	n/a
50	CEBPB	chr1:161599221-161599539	K562	blood:	n/a	chr1:161599340-161599353 chr1:161599340-161599353 chr1:161599340-161599351 chr1:161599342-161599351 chr1:161599340-161599353 chr1:161599342-161599351 chr1:161599342-161599351 chr1:161599340-161599351 chr1:161599342-161599351

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161602335-161602385	A549	lung:	n/a
2	chr1:161602335-161602385	A549	lung:	n/a
3	chr1:161601053-161601103	GM19239	blood:	n/a
4	chr1:161600769-161600819	NT2-D1	testis:	n/a
5	chr1:161600769-161600819	Caco-2	colon:	n/a
6	chr1:161647536-161647586	SAEC	small airway:	n/a
7	chr1:161646918-161646968	HMEC	breast:	n/a
8	chr1:161601053-161601103	AG10803	skin:	n/a
9	chr1:161594100-161594150	GM12892	blood:	n/a
10	chr1:161646918-161646968	RPTEC	kidney:	n/a
11	chr1:161601053-161601103	HepG2	liver:	n/a
12	chr1:161647536-161647586	AG10803	skin:	n/a
13	chr1:161601053-161601103	MCF-7	breast:	n/a
14	chr1:161602002-161602052	ovcar-3	ovarian:	n/a
15	chr1:161594100-161594150	HRE	kidney:	n/a
16	chr1:161601053-161601103	ECC-1	luminal epithelium:	n/a
17	chr1:161601721-161601771	LNCaP	prostate:	n/a
18	chr1:161601721-161601771	HepG2	liver:	n/a
19	chr1:161602335-161602385	HAEpiC	amniotic membrane:	n/a
20	chr1:161601721-161601771	AG10803	skin:	n/a
21	chr1:161647536-161647586	SK-N-SH_RA	brain:	n/a
22	chr1:161594100-161594150	LNCaP	prostate:	n/a
23	chr1:161602335-161602385	Caco-2	colon:	n/a
24	chr1:161600769-161600819	Jurkat	blood:	n/a
25	chr1:161602335-161602385	PrEC	prostate:	n/a
26	chr1:161646918-161646968	GM12892	blood:	n/a
27	chr1:161602002-161602052	AG09319	gingival:	n/a
28	chr1:161600769-161600819	HRCEpiC	kidney:	n/a
29	chr1:161594100-161594150	SK-N-SH_RA	brain:	n/a
30	chr1:161601053-161601103	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:161601721-161601771	AG09319	gingival:	n/a
32	chr1:161601721-161601771	HRPEpiC	eye:	n/a
33	chr1:161646918-161646968	T-47D	breast:	n/a
34	chr1:161647536-161647586	ECC-1	luminal epithelium:	n/a
35	chr1:161602335-161602385	SK-N-SH	brain:	n/a
36	chr1:161602002-161602052	RPTEC	kidney:	n/a
37	chr1:161602002-161602052	Hela-S3	cervix:	n/a
38	chr1:161601721-161601771	K562	blood:	n/a
39	chr1:161594100-161594150	AG09319	gingival:	n/a
40	chr1:161602335-161602385	ovcar-3	ovarian:	n/a
41	chr1:161601053-161601103	HRE	kidney:	n/a
42	chr1:161594100-161594150	AG04450	lung:	fetal
43	chr1:161601721-161601771	HCF	heart:	n/a
44	chr1:161602002-161602052	HUVEC	blood vessel:	n/a
45	chr1:161601721-161601771	HRE	kidney:	n/a
46	chr1:161602335-161602385	BE2_C	brain:	n/a
47	chr1:161600769-161600819	MCF10A-Er-Src	breast:	n/a
48	chr1:161601053-161601103	AoSMC	blood vessel:	n/a
49	chr1:161602335-161602385	HRCEpiC	kidney:	n/a
50	chr1:161602335-161602385	AG04449	skin:	fetal

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161615855..161618942-chr1:161693041..161695916,3	K562	blood:
2	chr1:161646936..161648819-chr1:161691795..161694064,2	K562	blood:
3	chr1:161591472..161593367-chr1:161719465..161721558,2	K562	blood:
4	chr1:161509609..161513548-chr1:161589499..161593604,6	K562	blood:
5	chr1:161510415..161513451-chr1:161591719..161594596,3	K562	blood:
6	chr1:161536027..161536622-chr1:161617103..161617839,3	MCF-7	breast:
7	chr1:161645664..161648632-chr1:161696817..161700044,3	K562	blood:
8	chr1:161645398..161648311-chr1:161695127..161698658,3	MCF-7	breast:
9	chr1:161624063..161625619-chr1:161692402..161694799,2	MCF-7	breast:
10	chr1:161596768..161599031-chr1:161599244..161601046,2	K562	blood:
11	chr1:161581093..161584001-chr1:161596781..161598662,2	MCF-7	breast:
12	chr1:161615132..161619077-chr1:161695627..161698654,3	MCF-7	breast:
13	chr1:161593440..161595997-chr1:161607470..161609029,2	K562	blood:
14	chr1:161557663..161559310-chr1:161591501..161593148,2	K562	blood:
15	chr1:161646892..161649318-chr1:161652568..161655060,2	K562	blood:
16	chr1:161646369..161648546-chr1:161652642..161654817,3	MCF-7	breast:
17	chr1:161559849..161561935-chr1:161640702..161643134,2	K562	blood:
18	chr1:161616209..161618831-chr1:161708579..161712751,3	MCF-7	breast:
19	chr1:161591008..161595787-chr1:161695155..161699954,5	K562	blood:
20	chr1:161616816..161618830-chr1:161691616..161693924,2	MCF-7	breast:
21	chr1:161648385..161650314-chr1:161696093..161698220,2	K562	blood:
22	chr1:161617120..161618031-chr1:161708194..161708800,2	K562	blood:
23	chr1:161645887..161649540-chr1:161691296..161697386,6	MCF-7	breast:
24	chr1:161622695..161624632-chr1:161694566..161696294,2	MCF-7	breast:
25	chr1:161640986..161643411-chr1:161696404..161699095,2	MCF-7	breast:
26	chr1:161616464..161620281-chr1:161694638..161697565,4	MCF-7	breast:
27	chr1:161593440..161595997-chr1:161607470..161609029,2	K562	blood:
28	chr1:161617105..161617670-chr1:161711057..161711617,2	MCF-7	breast:
29	chr1:161617196..161618017-chr1:161708253..161708755,2	MCF-7	breast:
30	chr1:161528077..161530889-chr1:161610740..161612765,2	K562	blood:
31	chr1:161591405..161593904-chr1:161697560..161699954,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FCRLA-1	chr1:161640042-161640062	NONHSAT007197
2	lnc-FCGR3B-1	chr1:161608045-161608218	XLOC_001068
3	lnc-C1orf192-3	chr1:161600845-161600916	NONHSAT007195
4	lnc-FCRLA-1	chr1:161641182-161643019	NONHSAT007197
5	lnc-FCRLA-1	chr1:161632989-161633143	NONHSAT007197
6	lnc-FCGR3B-2	chr1:161644418-161644614	ENSG00000234211.1
7	lnc-FCGR3B-2	chr1:161642049-161642073	ENSG00000234211.1
8	lnc-FCGR3B-1	chr1:161607438-161607725	XLOC_001068
9	lnc-C1orf192-3	chr1:161599680-161600178	NONHSAT007195
10	lnc-FCRLA-1	chr1:161643750-161643906	NONHSAT007197
11	lnc-FCGR3B-2	chr1:161641768-161641939	ENSG00000234211.1

No data

Variant related genes	Relation type
ENSG00000234211	TF binding region
FCGR3B	TF binding region
FCGR3A	TF binding region
FCGR2B	TF binding region
RPS23P9	TF binding region
ENSG00000234211	CpG island
FCGR3B	CpG island
FCGR3A	CpG island
FCGR2B	CpG island
RPS23P9	CpG island
ENSG00000213075	chromatin interactions
ENSG00000162746	chromatin interactions
ENSG00000203747	chromatin interactions
ENSG00000162747	chromatin interactions
ENSG00000081721	chromatin interactions

Extended variants
information (count: 2063 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2063 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2251148	chr1:161592851-161592852	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs431875	chr1:161592886-161592887	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs429688	chr1:161592908-161592909	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542687889	chr1:161592917-161592918	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs61803001	chr1:161592959-161592960	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs1042280	chr1:161593018-161593019	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs1042276	chr1:161593086-161593087	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs3171055	chr1:161593089-161593090	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs191334664	chr1:161593098-161593099	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs146653557	chr1:161593122-161593123	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs144061106	chr1:161593128-161593129	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs567460059	chr1:161593140-161593141	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs530093056	chr1:161593155-161593156	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs117234243	chr1:161593195-161593196	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs183571059	chr1:161593203-161593204	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs146446440	chr1:161593243-161593244	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs188643982	chr1:161593266-161593267	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371359439	chr1:161593297-161593298	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs569548616	chr1:161593334-161593335	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs61803002	chr1:161593349-161593350	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181189022	chr1:161593351-161593352	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573791957	chr1:161593357-161593358	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs428194	chr1:161593397-161593398	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187131554	chr1:161593462-161593463	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs61803003	chr1:161593468-161593469	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544662277	chr1:161593469-161593470	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559865234	chr1:161593482-161593483	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs61803004	chr1:161593551-161593552	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370393406	chr1:161593566-161593567	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61803005	chr1:161593571-161593572	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544010053	chr1:161593572-161593573	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190021467	chr1:161593592-161593593	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376105479	chr1:161593594-161593595	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530155808	chr1:161593635-161593636	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181609413	chr1:161593636-161593637	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566833549	chr1:161593668-161593669	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs61803006	chr1:161593718-161593719	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs552283660	chr1:161593795-161593796	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530970633	chr1:161593796-161593797	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs435985	chr1:161593817-161593818	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187307864	chr1:161593819-161593820	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550980464	chr1:161593822-161593823	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs72702127	chr1:161593831-161593832	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79636887	chr1:161593880-161593881	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192152686	chr1:161593893-161593894	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs553067383	chr1:161593898-161593899	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536720275	chr1:161593905-161593906	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144575913	chr1:161593906-161593907	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555286707	chr1:161593910-161593911	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs67167367	chr1:161593958-161593959	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:115)

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
Coronary artery disease	20973705	CNVD
Acute lymphoblastic leukemia	19100363	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:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161591800-161594400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:161591800-161594600	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:161591800-161594600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:161591800-161594600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:161591800-161594800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:161592000-161594400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:161592000-161599200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
8	chr1:161592200-161593000	Enhancers	Primary B cells from cord blood	blood
9	chr1:161592200-161593000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:161592200-161594000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:161592200-161594400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:161592200-161594400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:161592200-161594600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:161592200-161594800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:161592200-161596000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:161592400-161593000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:161592400-161593000	Active TSS	K562	blood
18	chr1:161592400-161593600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:161592400-161594200	Enhancers	Primary T cells from cord blood	blood
20	chr1:161592400-161594600	Enhancers	GM12878-XiMat	blood
21	chr1:161592600-161593800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:161592800-161593800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:161592800-161594000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:161593000-161593400	Flanking Active TSS	K562	blood
25	chr1:161593000-161593600	Active TSS	Primary hematopoietic stem cells	blood
26	chr1:161593000-161593600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:161593000-161594000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:161593400-161593800	Active TSS	K562	blood
29	chr1:161593600-161593800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr1:161593600-161593800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:161593600-161593800	Bivalent Enhancer	Fetal Thymus	thymus
32	chr1:161593600-161593800	Enhancers	Thymus	Thymus
33	chr1:161593600-161594000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:161593800-161594400	Active TSS	Primary hematopoietic stem cells	blood
35	chr1:161593800-161594400	Flanking Active TSS	K562	blood
36	chr1:161593800-161594800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:161594000-161594200	Enhancers	Primary B cells from cord blood	blood
38	chr1:161594000-161597800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr1:161594200-161594400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr1:161594400-161594600	Enhancers	Primary B cells from cord blood	blood
41	chr1:161594400-161594800	Enhancers	K562	blood
42	chr1:161594400-161595400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:161594400-161595800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:161594400-161595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:161594400-161595800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:161594400-161596600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:161594600-161595400	Weak transcription	Primary B cells from cord blood	blood
48	chr1:161594600-161595600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:161594600-161595600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:161594600-161595800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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