Variant report

Variant	rs27693
Chromosome Location	chr5:61699231-61699232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:263)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr5:61698981-61700386	A549	lung:	n/a	n/a
2	HCFC1	chr5:61699222-61700114	K562	blood:	n/a	n/a
3	SP1	chr5:61699192-61700014	GM12878	blood:	n/a	chr5:61699732-61699744 chr5:61699732-61699744 chr5:61699389-61699403
4	MAZ	chr5:61698937-61700263	IMR90	lung:	n/a	chr5:61700046-61700062
5	POLR2A	chr5:61699123-61700044	GM12891	blood:	n/a	n/a
6	NR2F2	chr5:61699156-61700332	K562	blood:	n/a	n/a
7	FOXP2	chr5:61699141-61699415	SK-N-MC	brain:	n/a	n/a
8	GABPA	chr5:61699176-61699985	K562	blood:	n/a	n/a
9	TCF3	chr5:61699106-61699758	GM12878	blood:	n/a	n/a
10	TAF1	chr5:61699121-61700152	GM12878	blood:	n/a	n/a
11	TAF1	chr5:61699194-61700130	K562	blood:	n/a	n/a
12	POLR2A	chr5:61699155-61700197	K562	blood:	n/a	n/a
13	RFX5	chr5:61699154-61700008	GM12878	blood:	n/a	n/a
14	ZNF143	chr5:61699181-61700278	GM12878	blood:	n/a	chr5:61699847-61699865 chr5:61699798-61699816
15	POLR2A	chr5:61699041-61700231	GM12892	blood:	n/a	n/a
16	SIN3AK20	chr5:61699017-61700221	HCT-116	colon:	n/a	n/a
17	POLR2A	chr5:61699007-61700249	GM19099	blood:	n/a	n/a
18	SPI1	chr5:61699101-61699580	HL-60	blood:	n/a	n/a
19	MAX	chr5:61699136-61700064	K562	blood:	n/a	chr5:61700046-61700062
20	MAX	chr5:61699109-61700238	Hela-S3	cervix:	n/a	chr5:61700046-61700062
21	NR2F2	chr5:61699221-61700190	MCF-7	breast:	n/a	n/a
22	RUNX3	chr5:61698989-61700269	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:61699186-61700218	HUVEC	blood vessel:	n/a	n/a
24	SIN3AK20	chr5:61698984-61700308	MCF-7	breast:	n/a	n/a
25	ELK1	chr5:61699122-61699941	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:61699160-61700240	GM12878	blood:	n/a	chr5:61699359-61699375 chr5:61700038-61700059 chr5:61700045-61700054
27	POLR2A	chr5:61698990-61700178	HepG2	liver:	n/a	n/a
28	RCOR1	chr5:61699165-61699995	K562	blood:	n/a	n/a
29	SIN3AK20	chr5:61699152-61699459	A549	lung:	n/a	n/a
30	MAX	chr5:61699129-61700285	SK-N-SH	brain:	n/a	chr5:61700046-61700062
31	TCF12	chr5:61699215-61699764	GM12878	blood:	n/a	n/a
32	ELF1	chr5:61699199-61699998	K562	blood:	n/a	chr5:61699422-61699434
33	RCOR1	chr5:61699221-61700150	K562	blood:	n/a	n/a
34	PAX5	chr5:61699174-61700045	GM12878	blood:	n/a	n/a
35	GTF2F1	chr5:61699168-61700152	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:61699140-61700162	ECC-1	luminal epithelium:	n/a	n/a
37	POU2F2	chr5:61699095-61700093	GM12878	blood:	n/a	n/a
38	POLR2A	chr5:61699126-61700172	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr5:61699171-61700030	GM12878	blood:	n/a	n/a
40	SPI1	chr5:61699183-61699487	GM12878	blood:	n/a	n/a
41	YY1	chr5:61699210-61700067	K562	blood:	n/a	n/a
42	TBP	chr5:61699151-61700293	K562	blood:	n/a	n/a
43	ZC3H11A	chr5:61699219-61700146	K562	blood:	n/a	n/a
44	GABPA	chr5:61699192-61700081	SK-N-SH	brain:	n/a	n/a
45	SIN3AK20	chr5:61699110-61700104	K562	blood:	n/a	n/a
46	BRCA1	chr5:61699033-61700190	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr5:61699114-61700246	GM18951	blood:	n/a	n/a
48	POLR2A	chr5:61699128-61700148	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr5:61699208-61700163	HL-60	blood:	n/a	n/a
50	MAX	chr5:61699199-61700107	HUVEC	blood vessel:	n/a	chr5:61700046-61700062

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61601799..61604714-chr5:61698844..61701505,2	MCF-7	breast:
2	chr15:72519248..72520809-chr5:61697872..61699713,2	MCF-7	breast:
3	chr5:61685307..61687523-chr5:61697635..61699406,2	K562	blood:
4	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
5	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
6	chr11:33036802..33037655-chr5:61699205..61699998,2	Hela-S3	cervix:
7	chr5:61601759..61603415-chr5:61698105..61699743,2	K562	blood:
8	chr5:61696900..61702493-chr5:61705289..61710261,23	K562	blood:
9	chr5:61679991..61682016-chr5:61697548..61699312,2	MCF-7	breast:
10	chr5:61601492..61604171-chr5:61697960..61699657,3	K562	blood:
11	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
12	chr5:61686508..61688949-chr5:61697910..61699480,2	MCF-7	breast:
13	chr5:61601958..61603491-chr5:61698096..61700949,2	MCF-7	breast:
14	chr5:61571856..61574619-chr5:61696505..61699367,2	K562	blood:

No data

Variant related genes	Relation type
IPO11	TF binding region
ENSG00000086189	Chromatin interaction
ENSG00000121690	Chromatin interaction
ENSG00000086200	Chromatin interaction
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10054305	0.96[CEU][hapmap]
rs10058044	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs10058598	0.90[CHD][hapmap]
rs10060589	0.83[ASN][1000 genomes]
rs10065749	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10069745	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10069988	0.90[CHD][hapmap]
rs10071537	0.81[EUR][1000 genomes]
rs10461472	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs10471545	0.84[CEU][hapmap]
rs10471546	0.83[EUR][1000 genomes]
rs10939937	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12515967	0.84[EUR][1000 genomes]
rs12517326	0.90[CHD][hapmap]
rs12696990	0.83[EUR][1000 genomes]
rs1301063	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1301064	0.85[CHD][hapmap]
rs1309156	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13155700	0.83[EUR][1000 genomes]
rs13174978	0.91[CEU][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs13361143	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs1477358	0.85[CHD][hapmap]
rs149540	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs149599	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152186	0.85[CHD][hapmap]
rs152187	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs152191	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs152192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs152199	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs152202	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs152203	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs152208	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs152209	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs152215	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs153857	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs153858	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs153862	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs1562244	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs166005	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16890622	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs173522	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs173523	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs174647	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs181912	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs2034240	0.84[EUR][1000 genomes]
rs2289883	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2344396	0.84[CEU][hapmap]
rs247218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247220	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs247221	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs247222	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247223	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247229	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs247233	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247237	0.85[CHD][hapmap]
rs247240	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247244	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247245	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs247247	0.88[CEU][hapmap]
rs247248	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247249	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247250	0.85[CHD][hapmap]
rs247255	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs247265	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247267	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247268	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs247269	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247270	0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs247273	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247275	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247479	0.85[CHD][hapmap]
rs247494	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs264519	0.84[EUR][1000 genomes]
rs264520	0.84[EUR][1000 genomes]
rs264521	0.84[EUR][1000 genomes]
rs264523	0.84[EUR][1000 genomes]
rs264528	0.84[EUR][1000 genomes]
rs264530	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs264531	0.83[EUR][1000 genomes]
rs26624	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs26625	0.88[CEU][hapmap]
rs26628	0.88[CEU][hapmap]
rs26629	0.87[CEU][hapmap]
rs26630	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs26631	0.86[ASN][1000 genomes]
rs26632	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs26635	0.85[CHD][hapmap]
rs26637	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26641	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26642	0.85[CHD][hapmap]
rs26644	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26645	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs27448	0.85[CHD][hapmap]
rs27542	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs28539215	0.85[ASN][1000 genomes]
rs28581963	0.85[ASN][1000 genomes]
rs28615140	0.81[ASN][1000 genomes]
rs32052	0.92[YRI][hapmap]
rs32154	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs32155	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs32164	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs32171	0.80[CEU][hapmap]
rs32181	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs32186	0.80[CEU][hapmap]
rs32187	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs32188	0.83[CEU][hapmap]
rs34562047	0.84[ASN][1000 genomes]
rs35010	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs35059	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs35119	0.85[CHD][hapmap]
rs366238	0.84[CEU][hapmap]
rs3776615	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3776638	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.87[ASN][1000 genomes]
rs3822485	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs39923	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs39935	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs40110	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4145851	0.80[CHD][hapmap]
rs438143	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4441833	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs4700004	0.84[CEU][hapmap]
rs4700006	0.87[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs4700009	0.84[EUR][1000 genomes]
rs4700494	0.85[CHD][hapmap]
rs56836756	0.83[EUR][1000 genomes]
rs67150497	0.83[EUR][1000 genomes]
rs6881888	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.87[ASN][1000 genomes]
rs767159	0.85[CHD][hapmap]
rs7700569	0.84[EUR][1000 genomes]
rs7702634	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs7707035	0.81[EUR][1000 genomes]
rs7717128	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs7722692	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs7737525	0.82[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.85[ASN][1000 genomes]
rs784916	0.85[CHD][hapmap]
rs784921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9291756	0.84[CEU][hapmap]
rs9291758	0.84[EUR][1000 genomes]
rs959899	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9968586	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs27693	DIMT1L	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61697800-61700800	Active TSS	NHLF	lung
2	chr5:61698000-61699400	Active TSS	Right Atrium	heart
3	chr5:61698000-61700200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:61698000-61700800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:61698000-61700800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:61698000-61700800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:61698200-61699400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:61698200-61700600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:61698200-61700600	Active TSS	Psoas Muscle	Psoas
10	chr5:61698200-61700600	Active TSS	Right Ventricle	heart
11	chr5:61698200-61700800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:61698200-61700800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:61698200-61701000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:61698400-61699400	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr5:61698400-61699600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:61698400-61700400	Active TSS	Ovary	ovary
17	chr5:61698400-61700600	Active TSS	HSMM	muscle
18	chr5:61698400-61700800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:61698400-61700800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:61698400-61700800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:61698400-61700800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:61698400-61700800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:61698400-61700800	Active TSS	Brain Substantia Nigra	brain
24	chr5:61698400-61700800	Active TSS	GM12878-XiMat	blood
25	chr5:61698400-61700800	Active TSS	NHDF-Ad	bronchial
26	chr5:61698400-61701000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:61698400-61701000	Active TSS	Stomach Smooth Muscle	stomach
28	chr5:61698600-61700400	Active TSS	Fetal Brain Male	brain
29	chr5:61698600-61700600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:61698600-61700600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:61698600-61700600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:61698600-61700600	Active TSS	Fetal Stomach	stomach
33	chr5:61698600-61700600	Active TSS	NH-A	brain
34	chr5:61698600-61700600	Active TSS	NHEK	skin
35	chr5:61698600-61700800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:61698600-61700800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:61698600-61700800	Active TSS	Hela-S3	cervix
38	chr5:61698600-61700800	Active TSS	HMEC	breast
39	chr5:61698600-61700800	Active TSS	HSMMtube	muscle
40	chr5:61698600-61700800	Active TSS	K562	blood
41	chr5:61698600-61701000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:61698600-61701000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr5:61698800-61699400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr5:61698800-61700000	Active TSS	Primary T cells fromperipheralblood	blood
45	chr5:61698800-61700200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:61698800-61700400	Active TSS	Fetal Lung	lung
47	chr5:61698800-61700600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr5:61698800-61700600	Active TSS	Fetal Intestine Large	intestine
49	chr5:61698800-61700600	Active TSS	Fetal Muscle Trunk	muscle
50	chr5:61698800-61700600	Active TSS	HUVEC	blood vessel

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