Variant report

Variant	rs6451662
Chromosome Location	chr5:43008917-43008918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:399)
CpG islands
(count:61)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:43008836-43009145	K562	blood:	n/a	chr5:43009071-43009085
2	REST	chr5:43007568-43009035	H1-neurons	neurons:	n/a	n/a
3	KAP1	chr5:43008625-43009015	K562	blood:	n/a	n/a
4	SIX5	chr5:43007791-43009153	A549	lung:	n/a	n/a
5	CTCF	chr5:43008542-43008976	MCF-7	breast:	n/a	n/a
6	TAF1	chr5:43008675-43008998	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr5:43007595-43010060	Hela-S3	cervix:	n/a	n/a
8	E2F6	chr5:43007473-43008997	H1-hESC	embryonic stem cell:	n/a	chr5:43008350-43008359
9	MAX	chr5:43007529-43009038	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr5:43008631-43009036	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr5:43007544-43009843	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:43007479-43009782	IMR90	lung:	n/a	n/a
13	E2F6	chr5:43007478-43009018	A549	lung:	n/a	chr5:43008350-43008359
14	CCNT2	chr5:43008440-43008937	K562	blood:	n/a	n/a
15	ELK1	chr5:43007472-43009044	GM12878	blood:	n/a	n/a
16	NFIC	chr5:43007531-43009122	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:43007338-43010590	PANC-1	pancreas:	n/a	n/a
18	TEAD4	chr5:43007476-43009093	K562	blood:	n/a	n/a
19	JUND	chr5:43007496-43009547	K562	blood:	n/a	chr5:43007667-43007675 chr5:43009342-43009349 chr5:43007667-43007675 chr5:43007667-43007674 chr5:43007665-43007676
20	JUN	chr5:43007603-43009080	K562	blood:	n/a	chr5:43007667-43007675 chr5:43007667-43007675 chr5:43007667-43007674
21	GABPA	chr5:43008589-43009031	A549	lung:	n/a	n/a
22	YY1	chr5:43008731-43008975	HCT-116	colon:	n/a	n/a
23	MAX	chr5:43007456-43010047	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:43007312-43009044	HL-60	blood:	n/a	n/a
25	TCF12	chr5:43008519-43009004	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr5:43008594-43008999	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr5:43007471-43009025	GM12891	blood:	n/a	n/a
28	EP300	chr5:43007895-43009099	SK-N-SH	brain:	n/a	chr5:43009071-43009085
29	MYC	chr5:43007520-43009400	K562	blood:	n/a	n/a
30	RFX5	chr5:43007460-43010092	Hela-S3	cervix:	n/a	n/a
31	RPC155	chr5:43008122-43008974	K562	blood:	n/a	n/a
32	CTCF	chr5:43008203-43008965	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr5:43008645-43009034	A549	lung:	n/a	n/a
34	GTF2B	chr5:43008701-43008977	K562	blood:	n/a	n/a
35	EP300	chr5:43008603-43008963	SK-N-SH_RA	brain:	n/a	n/a
36	POLR2A	chr5:43007368-43009204	SK-N-MC	brain:	n/a	n/a
37	MYC	chr5:43007402-43011171	NB4	blood:	n/a	n/a
38	POLR2A	chr5:43007525-43010794	NB4	blood:	n/a	n/a
39	ZNF384	chr5:43008725-43009013	GM12878	blood:	n/a	n/a
40	CUX1	chr5:43008819-43009573	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:43007400-43010832	GM12878	blood:	n/a	n/a
42	SMARCC2	chr5:43007364-43008992	Hela-S3	cervix:	n/a	n/a
43	MAFF	chr5:43008648-43009473	K562	blood:	n/a	chr5:43008841-43008859
44	MAX	chr5:43007623-43008961	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr5:43008678-43008979	HepG2	liver:	n/a	n/a
46	YY1	chr5:43007994-43009040	GM12878	blood:	n/a	n/a
47	REST	chr5:43007410-43009060	HL-60	blood:	n/a	n/a
48	ATF2	chr5:43007386-43009807	GM12878	blood:	n/a	n/a
49	GABPA	chr5:43008508-43008937	K562	blood:	n/a	n/a
50	CBX3	chr5:43008437-43009057	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43008875-43008925	PrEC	prostate:	n/a
2	chr5:43008875-43008925	HRPEpiC	eye:	n/a
3	chr5:43008875-43008925	HL-60	blood:	n/a
4	chr5:43008875-43008925	MCF10A-Er-Src	breast:	n/a
5	chr5:43008875-43008925	HUVEC	blood vessel:	n/a
6	chr5:43008875-43008925	T-47D	breast:	n/a
7	chr5:43008875-43008925	NHBE	bronchial:	n/a
8	chr5:43008875-43008925	GM19239	blood:	n/a
9	chr5:43008875-43008925	GM06990	blood:	n/a
10	chr5:43008875-43008925	PFSK-1	brain:	n/a
11	chr5:43008875-43008925	ProgFib	skin:	n/a
12	chr5:43008875-43008925	GM12878	blood:	n/a
13	chr5:43008875-43008925	HEEpiC	esophagus:	n/a
14	chr5:43008875-43008925	SK-N-SH_RA	brain:	n/a
15	chr5:43008875-43008925	Caco-2	colon:	n/a
16	chr5:43008875-43008925	AG09309	skin:	n/a
17	chr5:43008875-43008925	HCT-116	colon:	n/a
18	chr5:43008875-43008925	HNPCEpiC	eye:	n/a
19	chr5:43008875-43008925	HepG2	liver:	n/a
20	chr5:43008875-43008925	AG04450	lung:	fetal
21	chr5:43008875-43008925	ovcar-3	ovarian:	n/a
22	chr5:43008875-43008925	HCF	heart:	n/a
23	chr5:43008875-43008925	HCM	heart:	n/a
24	chr5:43008875-43008925	BJ	skin:	n/a
25	chr5:43008875-43008925	HAEpiC	amniotic membrane:	n/a
26	chr5:43008875-43008925	Hela-S3	cervix:	n/a
27	chr5:43008875-43008925	AG04449	skin:	fetal
28	chr5:43008875-43008925	SK-N-SH	brain:	n/a
29	chr5:43008875-43008925	MCF-7	breast:	n/a
30	chr5:43008875-43008925	CMK	blood:	n/a
31	chr5:43008875-43008925	SKMC	muscle:	n/a
32	chr5:43008875-43008925	HEK293	kidney:	embryo
33	chr5:43008875-43008925	NH-A	brain:	n/a
34	chr5:43008875-43008925	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:43008875-43008925	A549	lung:	n/a
36	chr5:43008875-43008925	PANC-1	pancreas:	n/a
37	chr5:43008875-43008925	AoSMC	blood vessel:	n/a
38	chr5:43008875-43008925	HRE	kidney:	n/a
39	chr5:43008875-43008925	GM12892	blood:	n/a
40	chr5:43008875-43008925	HIPEpiC	eye:	n/a
41	chr5:43008875-43008925	H1-hESC	embryonic stem cell:	embryo
42	chr5:43008875-43008925	BE2_C	brain:	n/a
43	chr5:43008875-43008925	IMR90	lung:	fetal
44	chr5:43008875-43008925	SAEC	small airway:	n/a
45	chr5:43008875-43008925	ECC-1	luminal epithelium:	n/a
46	chr5:43008875-43008925	K562	blood:	n/a
47	chr5:43008875-43008925	LNCaP	prostate:	n/a
48	chr5:43008875-43008925	NT2-D1	testis:	n/a
49	chr5:43008875-43008925	GM12891	blood:	n/a
50	chr5:43008875-43008925	Jurkat	blood:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43007547..43009866-chr5:43041551..43043821,3	MCF-7	breast:
2	chr5:42908654..42910895-chr5:43006900..43010047,5	MCF-7	breast:
3	chr5:43008402..43009658-chr5:43064918..43066427,5	Hela-S3	cervix:
4	chr5:42996039..42998077-chr5:43007869..43010510,2	MCF-7	breast:
5	chr5:43006860..43010287-chr5:43063692..43067440,8	K562	blood:
6	chr5:43008745..43011043-chr5:43025523..43027908,2	K562	blood:
7	chr5:42976709..42979278-chr5:43008290..43010781,3	K562	blood:
8	chr5:43006330..43010322-chr5:43119527..43123237,8	MCF-7	breast:
9	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
10	chr19:17970709..17971342-chr5:43008813..43009354,2	Hela-S3	cervix:
11	chr5:42928813..42931600-chr5:43007922..43010335,2	MCF-7	breast:
12	chr5:43006162..43011722-chr5:43063736..43068779,9	MCF-7	breast:
13	chr5:43007851..43010366-chr5:43021276..43023527,2	K562	blood:
14	chr5:42912159..42915403-chr5:43007665..43011079,4	MCF-7	breast:
15	chr5:43006524..43009170-chr5:43481827..43484461,4	K562	blood:
16	chr5:43008478..43012422-chr5:43036002..43039064,3	MCF-7	breast:
17	chr5:43006765..43010626-chr5:43063692..43068627,9	K562	blood:
18	chr5:43005189..43014948-chr5:43062554..43069130,17	MCF-7	breast:
19	chr5:42911324..42913004-chr5:43008845..43010689,2	K562	blood:
20	chr5:43007396..43009600-chr5:43120111..43123066,2	K562	blood:
21	chr5:43008295..43011216-chr5:43016929..43019962,5	K562	blood:
22	chr5:43006939..43009143-chr5:43119919..43122235,2	K562	blood:
23	chr12:120633502..120634199-chr5:43008450..43008975,2	NB4	blood:
24	chr5:43008417..43008920-chr6:26198981..26199601,2	Hela-S3	cervix:
25	chr5:43005322..43013124-chr5:43037748..43043287,15	K562	blood:
26	chr5:43006142..43009170-chr5:43482864..43485007,3	K562	blood:
27	chr5:43008333..43008927-chr5:72251893..72252581,2	Hela-S3	cervix:
28	chr16:46865030..46866009-chr5:43008664..43009315,2	Hela-S3	cervix:
29	chr5:43007330..43009530-chr5:43039640..43043303,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271788	TF binding region
ENSG00000271788	CpG island
ENSG00000249492	Chromatin interaction
ENSG00000155330	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000157107	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000251656	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000177721	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10064003	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10522	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941604	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10941605	0.88[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11747435	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11747714	0.81[ASW][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs11748821	0.87[EUR][1000 genomes]
rs11958008	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12697439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13169690	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13170208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171133	0.90[ASN][1000 genomes]
rs13178479	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179934	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1542369	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1574407	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs160709	0.87[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1618891	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs1624415	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs178415	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs186323	0.80[ASN][1000 genomes]
rs186324	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1902101	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100473	0.92[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2124069	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs222060	0.87[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247280	0.91[AMR][1000 genomes]
rs2253450	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329994	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329995	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2548334	0.80[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2548339	0.80[ASN][1000 genomes]
rs2548345	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2548349	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2548350	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2548353	0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2548356	0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2548373	0.92[AMR][1000 genomes]
rs2603620	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2603634	0.92[AMR][1000 genomes]
rs2603644	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2603656	0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2882295	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2924817	0.89[AMR][1000 genomes]
rs309909	0.87[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs309914	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309921	0.87[AMR][1000 genomes]
rs309923	0.83[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs309924	0.88[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs309925	0.88[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs309926	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs309927	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs309948	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs309950	0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs309951	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs316395	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316396	0.86[ASN][1000 genomes]
rs316400	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs316404	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs316408	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs316413	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs316414	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316416	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316419	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316422	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3909456	0.92[CHD][hapmap];0.95[JPT][hapmap]
rs4033115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4092293	0.83[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4092294	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4296812	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs512921	0.90[JPT][hapmap]
rs515970	0.82[ASN][1000 genomes]
rs543569	0.82[ASN][1000 genomes]
rs557076	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs565761	0.82[ASN][1000 genomes]
rs567884	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs613825	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs643307	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6451660	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451661	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875214	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6879130	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6890469	0.82[CHD][hapmap]
rs6892422	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs724430	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs768441	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7715065	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs782971	0.90[JPT][hapmap]
rs782978	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs782984	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs903391	0.90[JPT][hapmap]
rs9292862	0.87[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv881436	chr5:42967215-43008917	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
12	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
13	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
14	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43007000-43009800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:43007200-43009200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:43007200-43009400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr5:43007200-43009600	Active TSS	HSMMtube	muscle
5	chr5:43007200-43009800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:43007200-43010000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr5:43007200-43010000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr5:43007200-43010200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:43007200-43010200	Bivalent/Poised TSS	Left Ventricle	heart
10	chr5:43007200-43010400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr5:43007200-43010800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:43007400-43009000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:43007400-43009000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:43007400-43009000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:43007400-43009000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr5:43007400-43009000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr5:43007400-43009000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr5:43007400-43009200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:43007400-43009200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:43007400-43009400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:43007400-43009400	Active TSS	Aorta	Aorta
22	chr5:43007400-43009600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr5:43007400-43009800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:43007400-43009800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr5:43007400-43009800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
26	chr5:43007400-43009800	Active TSS	Ovary	ovary
27	chr5:43007400-43010000	Bivalent/Poised TSS	Liver	Liver
28	chr5:43007400-43010000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
29	chr5:43007400-43010000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
30	chr5:43007400-43010000	Active TSS	Esophagus	oesophagus
31	chr5:43007400-43010200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
32	chr5:43007400-43010400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr5:43007400-43010600	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr5:43007400-43010800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:43007600-43009000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:43007600-43009000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:43007600-43009000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr5:43007600-43009000	Active TSS	Gastric	stomach
39	chr5:43007600-43009600	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:43007600-43009800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr5:43007600-43009800	Active TSS	NHDF-Ad	bronchial
42	chr5:43007600-43010000	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr5:43007600-43010000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:43007600-43010000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr5:43007600-43010000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:43007600-43010000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr5:43007600-43010000	Active TSS	Thymus	Thymus
48	chr5:43007800-43009000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:43007800-43009000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr5:43007800-43009200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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