Variant report

Variant	esv3422069
Chromosome Location	chr1:62206889-62209737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:62207765-62207985	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:62208469-62208780	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:62208153-62208260	GM12878	blood:	n/a	n/a
4	BRCA1	chr1:62207338-62207889	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:62207476-62207837	MCF-7	breast:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
6	CEBPB	chr1:62207419-62207749	MCF-7	breast:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
7	CEBPB	chr1:62209537-62210538	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:62207430-62207751	H1-hESC	embryonic stem cell:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
9	CEBPB	chr1:62207379-62207913	Hela-S3	cervix:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
10	CEBPB	chr1:62207406-62207713	HepG2	liver:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
11	CEBPD	chr1:62207843-62208724	HepG2	liver:	n/a	n/a
12	CHD1	chr1:62207346-62207472	GM12878	blood:	n/a	n/a
13	CHD1	chr1:62207554-62207892	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr1:62209509-62210206	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr1:62208179-62208368	HepG2	liver:	n/a	chr1:62208348-62208358
16	CHD2	chr1:62207792-62209002	GM12878	blood:	n/a	chr1:62208102-62208112 chr1:62208348-62208358 chr1:62207920-62207930
17	CHD2	chr1:62208738-62208861	HepG2	liver:	n/a	n/a
18	CHD2	chr1:62207526-62209031	Hela-S3	cervix:	n/a	chr1:62208102-62208112 chr1:62208348-62208358 chr1:62207920-62207930
19	CREB1	chr1:62208051-62208668	A549	lung:	n/a	n/a
20	CREB1	chr1:62207349-62208775	HepG2	liver:	n/a	n/a
21	CTBP2	chr1:62207687-62208338	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr1:62208624-62209196	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:62207489-62207556	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:62208340-62208490	GM12868	blood:	n/a	n/a
25	CTCF	chr1:62208720-62208870	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr1:62207480-62207630	HMEC	breast:	n/a	n/a
27	CTCF	chr1:62207960-62208110	GM12873	blood:	n/a	n/a
28	CTCF	chr1:62207300-62207450	HMEC	breast:	n/a	n/a
29	CTCF	chr1:62208880-62209030	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr1:62208388-62208439	GM12878	blood:	n/a	n/a
31	CTCF	chr1:62207422-62207668	GM12878	blood:	n/a	n/a
32	CTCF	chr1:62207520-62207670	HMEC	breast:	n/a	n/a
33	CTCF	chr1:62208180-62208330	HUVEC	blood vessel:	n/a	chr1:62208291-62208304
34	CTCF	chr1:62208280-62208430	GM12871	blood:	n/a	chr1:62208291-62208304
35	CTCF	chr1:62208660-62208810	GM12871	blood:	n/a	n/a
36	E2F1	chr1:62207951-62208925	Hela-S3	cervix:	n/a	chr1:62208350-62208359 chr1:62208295-62208305 chr1:62208462-62208471 chr1:62208795-62208805 chr1:62208334-62208344
37	E2F4	chr1:62209244-62209444	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr1:62207596-62208223	MCF10A-Er-Src	breast:	n/a	chr1:62207922-62207931
39	EBF1	chr1:62208511-62208780	GM12878	blood:	n/a	n/a
40	EBF1	chr1:62209194-62209201	GM12878	blood:	n/a	n/a
41	EBF1	chr1:62207968-62208402	GM12878	blood:	n/a	n/a
42	EGR1	chr1:62207814-62208362	H1-hESC	embryonic stem cell:	n/a	chr1:62208334-62208347 chr1:62207923-62207933 chr1:62207923-62207936 chr1:62207920-62207934 chr1:62208350-62208360
43	EGR1	chr1:62208233-62208541	GM12878	blood:	n/a	chr1:62208365-62208379 chr1:62208334-62208347 chr1:62208354-62208364 chr1:62208462-62208472 chr1:62208468-62208481 chr1:62208350-62208360
44	EGR1	chr1:62207818-62208083	GM12878	blood:	n/a	chr1:62207923-62207933 chr1:62207923-62207936 chr1:62207920-62207934
45	ELF1	chr1:62207887-62208322	MCF-7	breast:	n/a	n/a
46	ELF1	chr1:62207703-62208456	GM12878	blood:	n/a	chr1:62208394-62208403
47	ELF1	chr1:62208014-62208289	HepG2	liver:	n/a	n/a
48	ELF1	chr1:62207805-62208294	MCF-7	breast:	n/a	n/a
49	ELF1	chr1:62207905-62208326	HepG2	liver:	n/a	n/a
50	ELF1	chr1:62207761-62208925	GM12878	blood:	n/a	chr1:62208394-62208403

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62208645-62208695	PANC-1	pancreas:	n/a
2	chr1:62207888-62207938	AG09309	skin:	n/a
3	chr1:62208645-62208695	PANC-1	pancreas:	n/a
4	chr1:62207888-62207938	AG09309	skin:	n/a
5	chr1:62207325-62207375	AG04450	lung:	fetal
6	chr1:62208631-62208681	GM19239	blood:	n/a
7	chr1:62208645-62208695	RPTEC	kidney:	n/a
8	chr1:62208631-62208681	SAEC	small airway:	n/a
9	chr1:62208631-62208681	BE2_C	brain:	n/a
10	chr1:62207966-62208016	HAEpiC	amniotic membrane:	n/a
11	chr1:62208645-62208695	HNPCEpiC	eye:	n/a
12	chr1:62208631-62208681	SK-N-SH	brain:	n/a
13	chr1:62207459-62207509	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:62209607-62209657	NT2-D1	testis:	n/a
15	chr1:62209607-62209657	Caco-2	colon:	n/a
16	chr1:62207325-62207375	LNCaP	prostate:	n/a
17	chr1:62209607-62209657	A549	lung:	n/a
18	chr1:62208645-62208695	U87	brain:	n/a
19	chr1:62207459-62207509	LNCaP	prostate:	n/a
20	chr1:62207459-62207509	HL-60	blood:	n/a
21	chr1:62208631-62208681	HCM	heart:	n/a
22	chr1:62207325-62207375	K562	blood:	n/a
23	chr1:62207966-62208016	ovcar-3	ovarian:	n/a
24	chr1:62207325-62207375	HepG2	liver:	n/a
25	chr1:62209607-62209657	HRE	kidney:	n/a
26	chr1:62209607-62209657	Jurkat	blood:	n/a
27	chr1:62208645-62208695	HCT-116	colon:	n/a
28	chr1:62208645-62208695	ovcar-3	ovarian:	n/a
29	chr1:62207459-62207509	HRPEpiC	eye:	n/a
30	chr1:62207966-62208016	HEK293	kidney:	embryo
31	chr1:62207966-62208016	SKMC	muscle:	n/a
32	chr1:62207888-62207938	AG04450	lung:	fetal
33	chr1:62208188-62208238	HL-60	blood:	n/a
34	chr1:62207459-62207509	SAEC	small airway:	n/a
35	chr1:62207888-62207938	HCM	heart:	n/a
36	chr1:62208188-62208238	HEEpiC	esophagus:	n/a
37	chr1:62207459-62207509	NT2-D1	testis:	n/a
38	chr1:62209607-62209657	GM19239	blood:	n/a
39	chr1:62207966-62208016	AG04449	skin:	fetal
40	chr1:62207325-62207375	GM12892	blood:	n/a
41	chr1:62208631-62208681	K562	blood:	n/a
42	chr1:62207888-62207938	HEK293	kidney:	embryo
43	chr1:62207459-62207509	GM12891	blood:	n/a
44	chr1:62207325-62207375	PFSK-1	brain:	n/a
45	chr1:62209607-62209657	HNPCEpiC	eye:	n/a
46	chr1:62207966-62208016	Caco-2	colon:	n/a
47	chr1:62209607-62209657	T-47D	breast:	n/a
48	chr1:62208645-62208695	HUVEC	blood vessel:	n/a
49	chr1:62207966-62208016	SAEC	small airway:	n/a
50	chr1:62208645-62208695	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:
2	chr1:62205058..62206604-chr1:62209401..62211579,2	MCF-7	breast:
3	chr1:62208685..62210922-chr1:62306053..62308101,2	MCF-7	breast:
4	chr1:62195644..62198416-chr1:62208450..62210291,2	MCF-7	breast:
5	chr1:62202682..62204489-chr1:62208277..62209978,2	MCF-7	breast:
6	chr1:62207664..62208616-chr14:74318620..74319495,2	Hela-S3	cervix:
7	chr1:61963324..61965163-chr1:62208941..62210966,2	MCF-7	breast:
8	chr1:62181029..62182922-chr1:62208198..62209826,2	MCF-7	breast:
9	chr1:62207671..62208171-chr19:46271999..46272502,2	Hela-S3	cervix:
10	chr1:62208123..62208675-chr5:133340262..133340975,2	HCT-116	colon:
11	chr1:62207014..62208687-chr8:103424188..103425708,2	MCF-7	breast:
12	chr1:62190630..62191606-chr1:62207469..62208515,4	Hela-S3	cervix:
13	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
14	chr1:62207506..62208255-chr17:56708908..56709525,2	Hela-S3	cervix:
15	chr1:62208190..62208964-chr19:2819218..2819953,2	Hela-S3	cervix:
16	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
17	chr1:62209123..62215729-chr1:62217503..62222690,8	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TM2D1-4	chr1:62207670-62208096	ENSG00000271200.1

Variant related genes	Relation type
INADL	TF binding region
ENSG00000271200	TF binding region
INADL	CpG island
ENSG00000271200	CpG island
ENSG00000172006	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000104517	chromatin interactions
ENSG00000258653	chromatin interactions
ENSG00000213585	chromatin interactions
ENSG00000162604	chromatin interactions
ENSG00000177045	chromatin interactions
ENSG00000140043	chromatin interactions
ENSG00000271737	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570377293	chr1:62206891-62206892	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113296952	chr1:62206897-62206898	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539272462	chr1:62206909-62206910	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554177216	chr1:62206927-62206928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7538547	chr1:62206968-62206969	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568657192	chr1:62206972-62206973	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568703495	chr1:62207003-62207004	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188673224	chr1:62207068-62207069	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs551128243	chr1:62207082-62207083	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs111730386	chr1:62207091-62207092	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs569468553	chr1:62207106-62207107	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs540088414	chr1:62207107-62207108	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368601905	chr1:62207111-62207112	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs557870820	chr1:62207135-62207136	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs572899815	chr1:62207162-62207163	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7551399	chr1:62207254-62207255	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs55731027	chr1:62207275-62207276	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs555427672	chr1:62207322-62207323	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573767242	chr1:62207370-62207371	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs7541172	chr1:62207386-62207387	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs113194106	chr1:62207440-62207441	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563455880	chr1:62207473-62207474	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs568994080	chr1:62207484-62207485	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs554169495	chr1:62207598-62207599	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs180778832	chr1:62207604-62207605	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs147710486	chr1:62207606-62207607	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs199746078	chr1:62207654-62207655	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs398053038	chr1:62207657-62207658	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs563964412	chr1:62207682-62207683	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs528074673	chr1:62207711-62207712	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs185976552	chr1:62207740-62207741	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs541624213	chr1:62207744-62207745	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs528964378	chr1:62207761-62207762	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs368289250	chr1:62207765-62207766	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs550906020	chr1:62207778-62207779	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs573959025	chr1:62207838-62207839	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs569389828	chr1:62207851-62207852	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
38	rs142861865	chr1:62207892-62207893	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
39	rs539792152	chr1:62207906-62207907	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs1779269	chr1:62207913-62207914	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566563347	chr1:62207972-62207973	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs372564802	chr1:62207990-62207991	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs533952193	chr1:62208031-62208032	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs112613776	chr1:62208151-62208152	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs573805717	chr1:62208158-62208159	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs538290813	chr1:62208159-62208160	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs556920840	chr1:62208176-62208177	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs575383535	chr1:62208183-62208184	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs79209854	chr1:62208244-62208245	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs564349794	chr1:62208263-62208264	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62191400-62207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:62202200-62207000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:62202200-62207200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:62202400-62207200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:62202400-62207200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:62202400-62207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:62202600-62207200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:62202800-62207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:62204800-62207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:62205600-62207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:62206200-62207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:62206200-62207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:62206400-62207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:62206400-62207200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:62206400-62207200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:62206400-62207200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:62206400-62207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:62206600-62207600	Flanking Active TSS	Hela-S3	cervix
23	chr1:62206800-62207000	Enhancers	Lung	lung
24	chr1:62206800-62207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:62206800-62207200	Enhancers	Esophagus	oesophagus
26	chr1:62206800-62207200	Enhancers	Pancreas	Pancrea
27	chr1:62206800-62207200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:62206800-62207400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:62206800-62207400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:62206800-62207400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:62206800-62207600	Enhancers	Small Intestine	intestine
32	chr1:62206800-62208000	Bivalent/Poised TSS	HepG2	liver
33	chr1:62207000-62207200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:62207000-62207200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:62207000-62207200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:62207000-62207200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:62207000-62207200	Enhancers	Brain Hippocampus Middle	brain
38	chr1:62207000-62207200	Enhancers	Colon Smooth Muscle	Colon
39	chr1:62207000-62207200	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:62207000-62207200	Enhancers	Fetal Brain Male	brain
41	chr1:62207000-62207200	Enhancers	Fetal Kidney	kidney
42	chr1:62207000-62207200	Enhancers	Fetal Lung	lung
43	chr1:62207000-62207200	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:62207000-62207200	Enhancers	A549	lung
45	chr1:62207000-62207200	Enhancers	GM12878-XiMat	blood
46	chr1:62207000-62207200	Enhancers	HMEC	breast
47	chr1:62207000-62207200	Active TSS	NHEK	skin
48	chr1:62207000-62207400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:62207000-62207600	Bivalent Enhancer	Fetal Thymus	thymus
50	chr1:62207000-62209800	Active TSS	HUES6 Cell Line	embryonic stem cell

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