Variant report

Variant	esv992753
Chromosome Location	chr2:85822210-85825244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:523)
CpG islands
(count:732)
Chromatin interactive
region (count:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:85822648-85822947	K562	blood:	n/a	n/a
2	ARID3A	chr2:85822245-85823089	HepG2	liver:	n/a	n/a
3	ATF1	chr2:85822546-85822968	K562	blood:	n/a	n/a
4	ATF3	chr2:85822531-85822778	K562	blood:	n/a	chr2:85822692-85822701
5	BACH1	chr2:85822444-85822666	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr2:85822124-85823204	A549	lung:	n/a	chr2:85822402-85822415
7	BHLHE40	chr2:85822413-85822949	K562	blood:	n/a	n/a
8	BHLHE40	chr2:85822463-85823014	GM12878	blood:	n/a	n/a
9	BRCA1	chr2:85822414-85822961	HepG2	liver:	n/a	n/a
10	BRCA1	chr2:85822231-85823061	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr2:85822911-85823010	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr2:85822067-85823142	K562	blood:	n/a	n/a
13	CCNT2	chr2:85822296-85823076	K562	blood:	n/a	n/a
14	CEBPD	chr2:85822718-85823335	HepG2	liver:	n/a	n/a
15	CEBPD	chr2:85822299-85822707	HepG2	liver:	n/a	n/a
16	CHD1	chr2:85822195-85823242	GM12878	blood:	n/a	n/a
17	CHD2	chr2:85822340-85823206	GM12878	blood:	n/a	n/a
18	CHD2	chr2:85822411-85823059	HepG2	liver:	n/a	n/a
19	CHD2	chr2:85822469-85822986	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr2:85822280-85823097	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr2:85822246-85823052	K562	blood:	n/a	n/a
22	CREB1	chr2:85822220-85823091	GM12878	blood:	n/a	n/a
23	CREB1	chr2:85822545-85823040	A549	lung:	n/a	n/a
24	CREB1	chr2:85822078-85823554	HepG2	liver:	n/a	n/a
25	CREB1	chr2:85822290-85823173	A549	lung:	n/a	n/a
26	CREB1	chr2:85822235-85823253	HepG2	liver:	n/a	n/a
27	CTCF	chr2:85822340-85822490	BJ	skin:	n/a	chr2:85822395-85822403
28	CTCF	chr2:85822460-85822610	HAc	cerebellar:	n/a	n/a
29	CTCF	chr2:85822440-85822590	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr2:85822420-85822570	AG04449	skin:	n/a	n/a
31	CTCF	chr2:85822440-85822590	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr2:85822440-85822590	NHLF	lung:	n/a	n/a
33	CTCF	chr2:85822600-85822750	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr2:85822520-85822670	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr2:85822360-85822510	HPAF	blood vessel:	n/a	chr2:85822395-85822403
36	CTCF	chr2:85822720-85822870	AG04449	skin:	n/a	n/a
37	CTCF	chr2:85822500-85822650	HPF	lung:	n/a	n/a
38	CTCF	chr2:85822460-85822610	GM12871	blood:	n/a	n/a
39	CTCF	chr2:85822420-85822570	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr2:85822260-85822410	NHEK	skin:	n/a	chr2:85822395-85822403
41	CTCF	chr2:85822380-85822530	AoAF	blood vessel:	n/a	chr2:85822395-85822403
42	CTCF	chr2:85822300-85822450	GM12868	blood:	n/a	chr2:85822395-85822403
43	CTCF	chr2:85822200-85822350	HPF	lung:	n/a	n/a
44	CTCF	chr2:85822300-85822450	RPTEC	kidney:	n/a	chr2:85822395-85822403
45	CUX1	chr2:85822714-85823028	GM12878	blood:	n/a	n/a
46	CUX1	chr2:85822932-85823457	K562	blood:	n/a	n/a
47	E2F4	chr2:85822431-85823022	MCF10A-Er-Src	breast:	n/a	chr2:85822789-85822798
48	E2F6	chr2:85822372-85822672	K562	blood:	n/a	n/a
49	E2F6	chr2:85822379-85823136	K562	blood:	n/a	chr2:85822789-85822798
50	E2F6	chr2:85822722-85822973	K562	blood:	n/a	chr2:85822789-85822798

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85822407-85822457	HCF	heart:	n/a
2	chr2:85822773-85822823	HAEpiC	amniotic membrane:	n/a
3	chr2:85822773-85822823	HCM	heart:	n/a
4	chr2:85824657-85824707	HUVEC	blood vessel:	n/a
5	chr2:85822773-85822823	Hepatocyte	liver:	n/a
6	chr2:85824657-85824707	HEK293	kidney:	embryo
7	chr2:85822726-85822776	SKMC	muscle:	n/a
8	chr2:85822830-85822880	GM19239	blood:	n/a
9	chr2:85822916-85822966	MCF-7	breast:	n/a
10	chr2:85822780-85822830	PANC-1	pancreas:	n/a
11	chr2:85822980-85823030	ProgFib	skin:	n/a
12	chr2:85822592-85822642	NT2-D1	testis:	n/a
13	chr2:85822407-85822457	Jurkat	blood:	n/a
14	chr2:85822780-85822830	ECC-1	luminal epithelium:	n/a
15	chr2:85822780-85822830	HCM	heart:	n/a
16	chr2:85822780-85822830	HMEC	breast:	n/a
17	chr2:85822680-85822730	PANC-1	pancreas:	n/a
18	chr2:85822423-85822473	RPTEC	kidney:	n/a
19	chr2:85822773-85822823	ECC-1	luminal epithelium:	n/a
20	chr2:85822592-85822642	GM12891	blood:	n/a
21	chr2:85822780-85822830	HCF	heart:	n/a
22	chr2:85822407-85822457	BJ	skin:	n/a
23	chr2:85822423-85822473	PFSK-1	brain:	n/a
24	chr2:85822592-85822642	PrEC	prostate:	n/a
25	chr2:85822405-85822455	GM12878	blood:	n/a
26	chr2:85822592-85822642	Caco-2	colon:	n/a
27	chr2:85822423-85822473	HIPEpiC	eye:	n/a
28	chr2:85822830-85822880	SAEC	small airway:	n/a
29	chr2:85822592-85822642	NHDF-neo	bronchial:	n/a
30	chr2:85822980-85823030	GM12892	blood:	n/a
31	chr2:85822405-85822455	AG04450	lung:	fetal
32	chr2:85822680-85822730	RPTEC	kidney:	n/a
33	chr2:85822980-85823030	SAEC	small airway:	n/a
34	chr2:85822830-85822880	HEK293	kidney:	embryo
35	chr2:85822592-85822642	K562	blood:	n/a
36	chr2:85822592-85822642	ovcar-3	ovarian:	n/a
37	chr2:85822780-85822830	MCF-7	breast:	n/a
38	chr2:85822423-85822473	AoSMC	blood vessel:	n/a
39	chr2:85824657-85824707	MCF10A-Er-Src	breast:	n/a
40	chr2:85822405-85822455	LNCaP	prostate:	n/a
41	chr2:85822726-85822776	HEEpiC	esophagus:	n/a
42	chr2:85822407-85822457	AG10803	skin:	n/a
43	chr2:85822726-85822776	HUVEC	blood vessel:	n/a
44	chr2:85822780-85822830	T-47D	breast:	n/a
45	chr2:85822830-85822880	Hepatocyte	liver:	n/a
46	chr2:85822780-85822830	HIPEpiC	eye:	n/a
47	chr2:85822916-85822966	AG04449	skin:	fetal
48	chr2:85822773-85822823	A549	lung:	n/a
49	chr2:85822726-85822776	AG09319	gingival:	n/a
50	chr2:85822830-85822880	HepG2	liver:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:201984723..201985418-chr2:85821518..85822517,2	Hela-S3	cervix:
2	chr2:85764595..85768669-chr2:85824476..85831716,9	MCF-7	breast:
3	chr2:85134027..85134692-chr2:85822279..85822974,2	Hela-S3	cervix:
4	chr2:85645665..85648237-chr2:85822312..85824673,3	MCF-7	breast:
5	chr2:85646214..85648407-chr2:85821151..85823018,2	K562	blood:
6	chr2:85822691..85823452-chr3:128996809..128997783,2	Hela-S3	cervix:
7	chr19:54693926..54694776-chr2:85822358..85823149,2	Hela-S3	cervix:
8	chr2:85788313..85790216-chr2:85821578..85824119,2	K562	blood:
9	chr2:85822441..85823400-chr7:5632187..5632838,2	NB4	blood:
10	chr2:85647963..85650741-chr2:85821196..85824176,3	K562	blood:
11	chr2:85764018..85768553-chr2:85822883..85829718,12	MCF-7	breast:
12	chr19:1275302..1276008-chr2:85822454..85823230,2	Hela-S3	cervix:
13	chr17:73851288..73851832-chr2:85822209..85823200,2	Hela-S3	cervix:
14	chr2:85765572..85767946-chr2:85820164..85824365,5	MCF-7	breast:
15	chr2:85822691..85823212-chr2:151343556..151344138,2	Hela-S3	cervix:
16	chr2:85822216..85823096-chr5:40679131..40679668,2	Hela-S3	cervix:
17	chr2:85764454..85770994-chr2:85819148..85831427,14	K562	blood:
18	chr2:85644157..85646975-chr2:85821960..85823560,2	K562	blood:
19	chr2:85820787..85822313-chr2:86179412..86182366,2	K562	blood:
20	chr2:85822194..85823099-chr3:149530275..149531008,3	Hela-S3	cervix:
21	chr2:85764880..85767543-chr2:85819729..85822384,2	MCF-7	breast:
22	chr2:85777446..85780419-chr2:85822995..85825315,2	MCF-7	breast:
23	chr2:85781595..85783590-chr2:85822310..85824885,2	MCF-7	breast:
24	chr2:29093068..29093611-chr2:85822821..85823344,2	Hela-S3	cervix:
25	chr2:85788313..85790312-chr2:85822619..85824449,2	K562	blood:
26	chr2:85594724..85597082-chr2:85821225..85823571,3	K562	blood:
27	chr1:145381800..145384680-chr2:85821996..85823962,2	MCF-7	breast:
28	chr2:85765237..85769549-chr2:85821409..85826975,10	K562	blood:
29	chr2:85821949..85822691-chr3:32022268..32023255,2	Hela-S3	cervix:
30	chr19:40336410..40337154-chr2:85822880..85823462,2	Hela-S3	cervix:
31	chr2:85802926..85807956-chr2:85820760..85828546,8	K562	blood:
32	chr2:85648213..85650447-chr2:85821641..85823247,2	MCF-7	breast:
33	chr2:74683585..74685846-chr2:85821390..85823281,2	MCF-7	breast:
34	chr12:129308199..129310201-chr2:85822340..85823983,2	MCF-7	breast:
35	chr2:85785429..85790468-chr2:85820934..85826927,9	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM150A-1	chr2:85822133-85822665	NONHSAT072023

No data

Variant related genes	Relation type
RNF181	TF binding region
USP39	TF binding region
RNF181	CpG island
USP39	CpG island
ENSG00000233396	chromatin interactions
ENSG00000042493	chromatin interactions
ENSG00000170892	chromatin interactions
ENSG00000082996	chromatin interactions
ENSG00000132471	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000144645	chromatin interactions
ENSG00000239779	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000183624	chromatin interactions
ENSG00000186854	chromatin interactions
ENSG00000242095	chromatin interactions
ENSG00000152292	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000228300	chromatin interactions
ENSG00000118640	chromatin interactions
ENSG00000139370	chromatin interactions
ENSG00000115486	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000115963	chromatin interactions
ENSG00000171103	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374354313	chr2:85822242-85822243	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
2	rs548523841	chr2:85822253-85822254	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
3	rs367932660	chr2:85822255-85822256	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
4	rs149752231	chr2:85822270-85822271	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
5	rs528164060	chr2:85822276-85822277	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
6	rs546339135	chr2:85822314-85822315	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
7	rs571793034	chr2:85822316-85822317	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
8	rs367566914	chr2:85822326-85822327	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
9	rs540881892	chr2:85822332-85822333	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
10	rs372076293	chr2:85822345-85822346	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
11	rs551171963	chr2:85822354-85822355	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
12	rs145644511	chr2:85822364-85822365	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
13	rs536952854	chr2:85822467-85822468	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
14	rs10186164	chr2:85822523-85822524	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566916170	chr2:85822559-85822560	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
16	rs534263681	chr2:85822560-85822561	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
17	rs558817514	chr2:85822579-85822580	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
18	rs577282585	chr2:85822584-85822585	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
19	rs2232738	chr2:85822616-85822617	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557123327	chr2:85822618-85822619	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
21	rs575409541	chr2:85822638-85822639	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
22	rs111514784	chr2:85822652-85822653	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
23	rs2232739	chr2:85822682-85822683	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534062709	chr2:85822748-85822749	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs528106114	chr2:85822749-85822750	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs539926882	chr2:85822752-85822753	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs564795216	chr2:85822753-85822754	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs532258016	chr2:85822773-85822774	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs532899375	chr2:85822774-85822775	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs550852929	chr2:85822782-85822783	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs2232740	chr2:85822818-85822819	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2232741	chr2:85822847-85822848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
33	rs376746210	chr2:85822852-85822853	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
34	rs199659104	chr2:85822856-85822857	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs2232742	chr2:85822863-85822864	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs375993615	chr2:85822868-85822869	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs113521042	chr2:85822873-85822874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs377671757	chr2:85822880-85822881	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs534148083	chr2:85822887-85822888	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs2232743	chr2:85822891-85822892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs2232744	chr2:85822892-85822893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs201474398	chr2:85822894-85822895	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs370940457	chr2:85822905-85822906	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs375414610	chr2:85822911-85822912	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs368059230	chr2:85822916-85822917	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
46	rs373720530	chr2:85822922-85822923	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs367593390	chr2:85822954-85822955	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs201423825	chr2:85822955-85822956	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs538348064	chr2:85822968-85822969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs200828041	chr2:85822996-85822997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	19115005	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85821400-85822400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr2:85821400-85822400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr2:85821400-85822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:85821400-85822400	Flanking Active TSS	Rectal Smooth Muscle	rectum
5	chr2:85821400-85822400	Flanking Active TSS	Dnd41	blood
6	chr2:85821400-85823400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:85821400-85823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:85821600-85822400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:85821600-85822400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr2:85821600-85822400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:85821600-85822400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:85821600-85822400	Flanking Active TSS	Liver	Liver
13	chr2:85821600-85822400	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:85821600-85822400	Flanking Active TSS	Colonic Mucosa	Colon
15	chr2:85821600-85822400	Flanking Active TSS	Fetal Thymus	thymus
16	chr2:85821600-85822400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:85821600-85822400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr2:85821600-85822400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:85821600-85822400	Flanking Active TSS	NHEK	skin
20	chr2:85821600-85822600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:85821600-85822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:85821600-85822600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:85821600-85823600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr2:85821600-85823600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:85821600-85823800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:85821600-85823800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:85821600-85823800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:85821600-85824000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:85821800-85822400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:85821800-85822400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:85821800-85822400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr2:85821800-85822400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:85821800-85822400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr2:85821800-85822400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr2:85821800-85822400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr2:85821800-85822400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:85821800-85822400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr2:85821800-85822400	Flanking Active TSS	Fetal Heart	heart
39	chr2:85821800-85822400	Flanking Active TSS	HSMMtube	muscle
40	chr2:85821800-85822400	Flanking Active TSS	HUVEC	blood vessel
41	chr2:85821800-85822400	Flanking Active TSS	NH-A	brain
42	chr2:85821800-85822400	Flanking Active TSS	Osteobl	bone
43	chr2:85821800-85823400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:85821800-85823800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr2:85821800-85824000	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:85822000-85822400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:85822000-85822400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:85822000-85822400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:85822000-85822400	Flanking Active TSS	Fetal Brain Male	brain
50	chr2:85822000-85822400	Flanking Active TSS	Fetal Brain Female	brain

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