Variant report

Variant	esv3426261
Chromosome Location	chr5:36876045-36878243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:998)
CpG islands
(count:611)
Chromatin interactive
region (count:46)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:36878225-36879394	K562	blood:	n/a	n/a
2	ARID3A	chr5:36877448-36877506	K562	blood:	n/a	n/a
3	ARID3A	chr5:36876653-36877035	HepG2	liver:	n/a	chr5:36876821-36876829
4	ARID3A	chr5:36876734-36876922	K562	blood:	n/a	chr5:36876821-36876829
5	ARID3A	chr5:36875963-36876262	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:36875117-36876260	K562	blood:	n/a	n/a
7	ATF1	chr5:36876694-36876994	K562	blood:	n/a	n/a
8	ATF2	chr5:36875717-36876321	GM12878	blood:	n/a	n/a
9	ATF2	chr5:36877473-36877865	GM12878	blood:	n/a	n/a
10	ATF2	chr5:36876526-36877013	GM12878	blood:	n/a	n/a
11	ATF3	chr5:36876567-36876889	K562	blood:	n/a	n/a
12	BACH1	chr5:36875864-36876905	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:36877670-36877747	K562	blood:	n/a	n/a
14	BATF	chr5:36876625-36876916	GM12878	blood:	n/a	n/a
15	BCL3	chr5:36876558-36877081	A549	lung:	n/a	chr5:36877022-36877035 chr5:36876857-36876866
16	BCL3	chr5:36876030-36876468	A549	lung:	n/a	n/a
17	BCL3	chr5:36876631-36876914	GM12878	blood:	n/a	chr5:36876857-36876866
18	BCLAF1	chr5:36876597-36877103	K562	blood:	n/a	chr5:36877022-36877035 chr5:36876857-36876866
19	BCLAF1	chr5:36875865-36877235	GM12878	blood:	n/a	chr5:36877022-36877035 chr5:36876857-36876866
20	BCLAF1	chr5:36875847-36877061	GM12878	blood:	n/a	chr5:36877022-36877035 chr5:36876857-36876866
21	BCLAF1	chr5:36876485-36877585	K562	blood:	n/a	chr5:36877500-36877513 chr5:36877022-36877035 chr5:36876857-36876866
22	BCLAF1	chr5:36877288-36878128	GM12878	blood:	n/a	chr5:36877500-36877513
23	BHLHE40	chr5:36875674-36876308	GM12878	blood:	n/a	n/a
24	BHLHE40	chr5:36876610-36878052	GM12878	blood:	n/a	n/a
25	BHLHE40	chr5:36876613-36877355	HepG2	liver:	n/a	n/a
26	BHLHE40	chr5:36875938-36877752	K562	blood:	n/a	n/a
27	BRCA1	chr5:36875625-36876333	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr5:36876593-36877252	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr5:36875994-36876295	HepG2	liver:	n/a	n/a
30	CCNT2	chr5:36874586-36877860	K562	blood:	n/a	n/a
31	CEBPB	chr5:36877523-36877790	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr5:36876847-36876903	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr5:36876605-36876928	Hela-S3	cervix:	n/a	n/a
34	CEBPD	chr5:36876480-36877181	HepG2	liver:	n/a	n/a
35	CEBPD	chr5:36876525-36877238	K562	blood:	n/a	n/a
36	CHD1	chr5:36874534-36878946	IMR90	lung:	n/a	n/a
37	CHD1	chr5:36875107-36878856	GM12878	blood:	n/a	n/a
38	CHD1	chr5:36877140-36878228	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr5:36875649-36876477	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr5:36875898-36876335	K562	blood:	n/a	n/a
41	CHD2	chr5:36875912-36877153	GM12878	blood:	n/a	n/a
42	CHD2	chr5:36876612-36877825	K562	blood:	n/a	n/a
43	CHD2	chr5:36876648-36876921	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr5:36876053-36876907	HepG2	liver:	n/a	n/a
45	CHD2	chr5:36877451-36877523	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr5:36875891-36877840	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr5:36876043-36876224	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr5:36876441-36877092	GM12878	blood:	n/a	n/a
49	CREB1	chr5:36876467-36877054	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr5:36876354-36877054	A549	lung:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:36877379-36877429	SKMC	muscle:	n/a
2	chr5:36877379-36877429	SKMC	muscle:	n/a
3	chr5:36876111-36876161	Jurkat	blood:	n/a
4	chr5:36876114-36876164	H1-hESC	embryonic stem cell:	embryo
5	chr5:36877216-36877266	NB4	blood:	n/a
6	chr5:36877379-36877429	ovcar-3	ovarian:	n/a
7	chr5:36876954-36877004	U87	brain:	n/a
8	chr5:36876667-36876717	HUVEC	blood vessel:	n/a
9	chr5:36876537-36876587	Jurkat	blood:	n/a
10	chr5:36877379-36877429	HL-60	blood:	n/a
11	chr5:36876667-36876717	IMR90	lung:	fetal
12	chr5:36876680-36876730	HAEpiC	amniotic membrane:	n/a
13	chr5:36877379-36877429	NH-A	brain:	n/a
14	chr5:36876537-36876587	NHBE	bronchial:	n/a
15	chr5:36877626-36877676	ECC-1	luminal epithelium:	n/a
16	chr5:36877216-36877266	HEEpiC	esophagus:	n/a
17	chr5:36876680-36876730	NH-A	brain:	n/a
18	chr5:36876954-36877004	BE2_C	brain:	n/a
19	chr5:36876680-36876730	AG04449	skin:	fetal
20	chr5:36877216-36877266	H1-hESC	embryonic stem cell:	embryo
21	chr5:36877626-36877676	MCF-7	breast:	n/a
22	chr5:36876680-36876730	HepG2	liver:	n/a
23	chr5:36876667-36876717	AG09309	skin:	n/a
24	chr5:36876114-36876164	SK-N-SH_RA	brain:	n/a
25	chr5:36876114-36876164	GM06990	blood:	n/a
26	chr5:36876954-36877004	AG04450	lung:	fetal
27	chr5:36876680-36876730	Caco-2	colon:	n/a
28	chr5:36876680-36876730	NHBE	bronchial:	n/a
29	chr5:36876833-36876883	SAEC	small airway:	n/a
30	chr5:36876667-36876717	SKMC	muscle:	n/a
31	chr5:36876114-36876164	HRE	kidney:	n/a
32	chr5:36876833-36876883	H1-hESC	embryonic stem cell:	embryo
33	chr5:36876833-36876883	MCF10A-Er-Src	breast:	n/a
34	chr5:36877216-36877266	GM12892	blood:	n/a
35	chr5:36877216-36877266	HCT-116	colon:	n/a
36	chr5:36877626-36877676	RPTEC	kidney:	n/a
37	chr5:36876111-36876161	LNCaP	prostate:	n/a
38	chr5:36877626-36877676	BJ	skin:	n/a
39	chr5:36876114-36876164	Jurkat	blood:	n/a
40	chr5:36876111-36876161	HIPEpiC	eye:	n/a
41	chr5:36876954-36877004	SK-N-SH	brain:	n/a
42	chr5:36876537-36876587	HCF	heart:	n/a
43	chr5:36876833-36876883	HL-60	blood:	n/a
44	chr5:36876114-36876164	CMK	blood:	n/a
45	chr5:36877379-36877429	Hela-S3	cervix:	n/a
46	chr5:36877379-36877429	HRCEpiC	kidney:	n/a
47	chr5:36877216-36877266	SKMC	muscle:	n/a
48	chr5:36876537-36876587	HMEC	breast:	n/a
49	chr5:36876667-36876717	SK-N-MC	brain:	n/a
50	chr5:36876537-36876587	NB4	blood:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62554095..62554682-chr5:36876746..36877433,2	Hela-S3	cervix:
2	chr11:17098992..17099642-chr5:36875283..36876218,2	HCT-116	colon:
3	chr5:36747370..36751101-chr5:36873214..36876820,3	K562	blood:
4	chr5:36842024..36844943-chr5:36873859..36876803,3	K562	blood:
5	chr5:36752966..36755590-chr5:36874213..36876104,2	K562	blood:
6	chr5:36860992..36862691-chr5:36875759..36878440,2	K562	blood:
7	chr14:103540517..103541377-chr5:36875924..36876649,2	Hela-S3	cervix:
8	chr5:36877627..36879271-chr5:36903588..36906365,2	MCF-7	breast:
9	chr13:99228841..99229685-chr5:36876628..36877223,2	Hela-S3	cervix:
10	chr5:36729106..36729682-chr5:36875624..36876637,3	MCF-7	breast:
11	chr5:36876342..36877209-chrX:153626319..153627100,2	Hela-S3	cervix:
12	chr12:122907836..122908689-chr5:36876906..36877771,2	Hela-S3	cervix:
13	chr5:36240939..36242558-chr5:36874591..36876688,2	K562	blood:
14	chr17:57915027..57916783-chr5:36875321..36877865,2	MCF-7	breast:
15	chr5:36877699..36879526-chr5:36890759..36893139,2	MCF-7	breast:
16	chr5:36836454..36838672-chr5:36877246..36879256,2	K562	blood:
17	chr15:51057662..51059502-chr5:36875365..36877060,2	MCF-7	breast:
18	chr5:36876363..36877049-chr7:39989868..39990637,2	Hela-S3	cervix:
19	chr2:88314948..88316394-chr5:36876338..36877247,3	Hela-S3	cervix:
20	chr5:36739471..36740387-chr5:36876041..36876823,2	K562	blood:
21	chr5:36777373..36779388-chr5:36874708..36876280,2	MCF-7	breast:
22	chr18:12947867..12948535-chr5:36876330..36876850,2	Hela-S3	cervix:
23	chr5:36875375..36878248-chr5:37375352..37377665,2	K562	blood:
24	chr2:10262864..10263458-chr5:36876574..36877166,2	NB4	blood:
25	chr17:77812741..77813244-chr5:36876363..36877074,2	NB4	blood:
26	chr5:36874203..36876610-chr5:36934732..36937213,2	MCF-7	breast:
27	chr5:36874693..36876712-chr5:36894953..36896945,2	K562	blood:
28	chr16:284664..285484-chr5:36876389..36877358,2	Hela-S3	cervix:
29	chr3:128444867..128445573-chr5:36876639..36877272,2	Hela-S3	cervix:
30	chr5:36877079..36878828-chr5:36943978..36945931,2	MCF-7	breast:
31	chr16:25269142..25270109-chr5:36876525..36877151,2	Hela-S3	cervix:
32	chr12:123717391..123717932-chr5:36876032..36877000,2	Hela-S3	cervix:
33	chr5:36876650..36877236-chr7:99933531..99934342,2	Hela-S3	cervix:
34	chr10:102820738..102821464-chr5:36876624..36877148,2	Hela-S3	cervix:
35	chr5:36744791..36745382-chr5:36875636..36876170,2	MCF-7	breast:
36	chr17:79008801..79009359-chr5:36876376..36876943,2	Hela-S3	cervix:
37	chr18:11851301..11851864-chr5:36875950..36876805,2	Hela-S3	cervix:
38	chr1:145437800..145438586-chr5:36878077..36878735,2	Hela-S3	cervix:
39	chr1:43232442..43232964-chr5:36876741..36877440,2	Hela-S3	cervix:
40	chr5:36739352..36740196-chr5:36875690..36876608,3	MCF-7	breast:
41	chr16:77224141..77224935-chr5:36877159..36878081,2	Hela-S3	cervix:
42	chr5:36876413..36877387-chr6:32939757..32940537,2	Hela-S3	cervix:
43	chr19:34745458..34746355-chr5:36876285..36876880,2	Hela-S3	cervix:
44	chr15:59665232..59666166-chr5:36875918..36876809,2	Hela-S3	cervix:
45	chr5:36722181..36727364-chr5:36874838..36878996,5	MCF-7	breast:
46	chr17:41277189..41278053-chr5:36876513..36877425,3	NB4	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf42-2	chr5:36871463-36876796	NONHSAT147328
2	lnc-C5orf42-2	chr5:36867686-36876860	NONHSAT101045
3	lnc-NIPBL-1	chr5:36874735-36876605	XLOC_004339
4	lnc-C5orf42-2	chr5:36875773-36876759	ENSG00000248044

No data

Variant related genes	Relation type
NIPBL	TF binding region
NIPBL	CpG island
ENSG00000272752	chromatin interactions
ENSG00000121716	chromatin interactions
ENSG00000250455	chromatin interactions
ENSG00000273162	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000103111	chromatin interactions
ENSG00000269176	chromatin interactions
ENSG00000117385	chromatin interactions
ENSG00000250155	chromatin interactions
ENSG00000075785	chromatin interactions
ENSG00000242294	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000167930	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000138600	chromatin interactions
ENSG00000102572	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000224418	chromatin interactions
ENSG00000141582	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000155592	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000164008	chromatin interactions
ENSG00000012048	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000198496	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000255112	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000272103	chromatin interactions
ENSG00000166398	chromatin interactions
ENSG00000152620	chromatin interactions
PTPRK	miRNA target sites

Extended variants
information (count: 66 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575951055	chr5:36876083-36876084	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
2	rs543330782	chr5:36876246-36876247	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
3	rs896477	chr5:36876263-36876264	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
4	rs561599517	chr5:36876275-36876276	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
5	rs199523373	chr5:36876282-36876283	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
6	rs397997383	chr5:36876283-36876284	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
7	rs550303371	chr5:36876312-36876313	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
8	rs151180561	chr5:36876333-36876334	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
9	rs540638235	chr5:36876342-36876343	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
10	rs559301407	chr5:36876361-36876362	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
11	rs532881888	chr5:36876365-36876366	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
12	rs76148721	chr5:36876366-36876367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
13	rs563125307	chr5:36876380-36876381	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
14	rs530646318	chr5:36876406-36876407	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
15	rs59761392	chr5:36876418-36876419	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567413257	chr5:36876527-36876528	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
17	rs534928425	chr5:36876643-36876644	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
18	rs546632451	chr5:36876670-36876671	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
19	rs572246968	chr5:36876712-36876713	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
20	rs571662626	chr5:36876741-36876742	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
21	rs539125575	chr5:36876780-36876781	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	32 gene(s)	Overlapped CNVs	n/a
22	rs201629543	chr5:36876788-36876789	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	32 gene(s)	Overlapped CNVs	n/a
23	rs557526637	chr5:36876799-36876800	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	32 gene(s)	Overlapped CNVs	n/a
24	rs575888576	chr5:36876807-36876808	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
25	rs536814792	chr5:36876813-36876814	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
26	rs373316900	chr5:36876901-36876902	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
27	rs555162591	chr5:36876925-36876926	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
28	rs376839773	chr5:36876926-36876927	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
29	rs201682335	chr5:36877027-36877028	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs540966156	chr5:36877048-36877049	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs377354585	chr5:36877053-36877054	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs577250117	chr5:36877061-36877062	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs544681871	chr5:36877117-36877118	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs538879560	chr5:36877143-36877144	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
35	rs567891305	chr5:36877201-36877202	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs563016602	chr5:36877205-36877206	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
37	rs558867335	chr5:36877206-36877207	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
38	rs539146812	chr5:36877227-36877228	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs557864476	chr5:36877252-36877253	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs1494625	chr5:36877261-36877262	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs532015680	chr5:36877283-36877284	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs13166703	chr5:36877304-36877305	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs13166704	chr5:36877307-36877308	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs199852008	chr5:36877328-36877329	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs187032702	chr5:36877396-36877397	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs116068014	chr5:36877397-36877398	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs369461444	chr5:36877438-36877439	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs375225868	chr5:36877439-36877440	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs79354043	chr5:36877449-36877450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs201471502	chr5:36877457-36877458	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36872800-36881400	Active TSS	GM12878-XiMat	blood
2	chr5:36873400-36879400	Active TSS	Ovary	ovary
3	chr5:36873800-36876600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:36874000-36878800	Active TSS	Psoas Muscle	Psoas
5	chr5:36874000-36879400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:36874000-36879400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:36874000-36879400	Active TSS	Right Atrium	heart
8	chr5:36874200-36879200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:36874200-36879800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:36874400-36879800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:36874400-36880000	Active TSS	Fetal Brain Female	brain
12	chr5:36874600-36879200	Active TSS	Fetal Muscle Trunk	muscle
13	chr5:36874600-36879400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:36874600-36879400	Active TSS	Fetal Muscle Leg	muscle
15	chr5:36874600-36879400	Active TSS	Right Ventricle	heart
16	chr5:36874600-36879600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:36874600-36879800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:36874800-36878200	Active TSS	Fetal Brain Male	brain
19	chr5:36874800-36878400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:36874800-36878800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:36874800-36878800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:36874800-36879000	Active TSS	Left Ventricle	heart
23	chr5:36874800-36879200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:36874800-36879200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr5:36874800-36879400	Active TSS	Aorta	Aorta
26	chr5:36874800-36879600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:36874800-36879600	Active TSS	HSMMtube	muscle
28	chr5:36874800-36879800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:36874800-36879800	Active TSS	NHDF-Ad	bronchial
30	chr5:36874800-36880400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:36874800-36881000	Active TSS	K562	blood
32	chr5:36875000-36876200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:36875000-36876200	Active TSS	Brain Germinal Matrix	brain
34	chr5:36875000-36878400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr5:36875000-36878400	Active TSS	Brain Anterior Caudate	brain
36	chr5:36875000-36878400	Active TSS	Fetal Heart	heart
37	chr5:36875000-36878400	Active TSS	Rectal Smooth Muscle	rectum
38	chr5:36875000-36878400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr5:36875000-36878600	Active TSS	Brain Substantia Nigra	brain
40	chr5:36875000-36878800	Active TSS	Brain Angular Gyrus	brain
41	chr5:36875000-36879400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:36875000-36879400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:36875000-36879400	Active TSS	Fetal Intestine Small	intestine
44	chr5:36875000-36879400	Active TSS	Fetal Stomach	stomach
45	chr5:36875000-36879400	Active TSS	HSMM	muscle
46	chr5:36875000-36879600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:36875000-36879800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:36875000-36879800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr5:36875000-36880000	Active TSS	NHLF	lung
50	chr5:36875000-36880600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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