Variant report

Variant	rs13005382
Chromosome Location	chr2:208898544-208898545
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:208898415-208899301	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:208898394-208899193	HepG2	liver:	n/a	n/a
3	NFIC	chr2:208898377-208899379	HepG2	liver:	n/a	n/a
4	IKZF1	chr2:208898465-208899129	GM12878	blood:	n/a	n/a
5	NFIC	chr2:208898289-208899285	GM12878	blood:	n/a	n/a
6	HDAC2	chr2:208898403-208899087	HepG2	liver:	n/a	n/a
7	MBD4	chr2:208898401-208899404	HepG2	liver:	n/a	n/a
8	TBP	chr2:208898508-208899149	HepG2	liver:	n/a	n/a
9	HNF4A	chr2:208898481-208898791	HepG2	liver:	n/a	n/a
10	ATF2	chr2:208898461-208899335	GM12878	blood:	n/a	n/a
11	CEBPB	chr2:208898297-208899300	GM12878	blood:	n/a	n/a
12	NFIC	chr2:208898355-208899314	HepG2	liver:	n/a	n/a
13	MBD4	chr2:208898315-208899326	HepG2	liver:	n/a	n/a
14	EP300	chr2:208898308-208899182	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:208898525-208899631	HepG2	liver:	n/a	n/a
16	FOXM1	chr2:208898393-208899261	GM12878	blood:	n/a	n/a
17	EP300	chr2:208898525-208899164	GM12878	blood:	n/a	n/a
18	FOXA1	chr2:208898441-208899216	HepG2	liver:	n/a	n/a
19	MYBL2	chr2:208898283-208899354	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:208898367-208899213	HepG2	liver:	n/a	n/a
21	RAD21	chr2:208898405-208899368	HepG2	liver:	n/a	n/a
22	RAD21	chr2:208898498-208899242	HepG2	liver:	n/a	n/a
23	TEAD4	chr2:208898275-208899411	HepG2	liver:	n/a	n/a
24	YY1	chr2:208898404-208898631	GM12891	blood:	n/a	n/a
25	POLR2A	chr2:208898424-208899234	HepG2	liver:	n/a	n/a
26	RUNX3	chr2:208898297-208899260	GM12878	blood:	n/a	chr2:208898562-208898571 chr2:208898562-208898571
27	HNF4G	chr2:208898420-208899165	HepG2	liver:	n/a	n/a
28	MYBL2	chr2:208898263-208899428	HepG2	liver:	n/a	n/a
29	RUNX3	chr2:208898399-208899128	GM12878	blood:	n/a	chr2:208898562-208898571 chr2:208898562-208898571
30	ZBTB7A	chr2:208898497-208899002	HepG2	liver:	n/a	n/a
31	MXI1	chr2:208898544-208899246	HepG2	liver:	n/a	n/a
32	CTCF	chr2:208898542-208899363	A549	lung:	n/a	n/a
33	JUND	chr2:208898449-208899557	HepG2	liver:	n/a	chr2:208898984-208898995

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:208610452..208611437-chr2:208898520..208899445,4	K562	blood:
2	chr2:208888946..208890856-chr2:208898000..208900571,2	MCF-7	breast:
3	chr2:208898527..208899123-chr7:152160939..152161603,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185078	TF binding region
ENSG00000178385	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10192065	0.89[CEU][hapmap]
rs10193505	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10193523	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10196408	0.90[EUR][1000 genomes]
rs10198217	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10497891	0.89[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs10497892	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10497894	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10804164	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10932218	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10932220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10932221	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932223	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10932225	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10932226	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10932227	0.90[ASN][1000 genomes]
rs10932228	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11676872	0.84[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11679374	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11687058	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11687255	0.92[ASN][1000 genomes]
rs11688041	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11688936	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11694308	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11891423	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11893393	0.82[JPT][hapmap]
rs12465154	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12469400	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12612391	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694097	0.85[EUR][1000 genomes]
rs13002973	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs13006024	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13018735	0.95[ASN][1000 genomes]
rs13387203	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13420900	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13421034	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466186	0.97[ASN][1000 genomes]
rs1545503	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16840362	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16840390	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16840392	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17598650	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17640827	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17641035	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1812697	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1965865	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2044971	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2084870	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2084871	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100348	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100349	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2100351	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2123294	0.95[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2362782	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2362783	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2362786	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2362788	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2362789	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2885599	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2885600	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34025579	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34335027	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34354040	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35594487	0.80[ASN][1000 genomes]
rs35687108	0.84[EUR][1000 genomes]
rs35726860	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35783183	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35968595	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3795911	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3795912	1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4021953	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4441448	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4507086	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4673377	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4675722	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4675723	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4675724	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4675725	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4675726	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55883450	0.98[ASN][1000 genomes]
rs56007263	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56340702	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56812613	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60679550	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6435403	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6435404	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6712527	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6718363	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6718487	0.86[ASN][1000 genomes]
rs6723557	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6733166	0.87[ASN][1000 genomes]
rs6733857	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67351199	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6741366	0.95[CEU][hapmap];0.98[GIH][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67417299	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6757323	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6757327	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7355275	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7424035	0.99[ASN][1000 genomes]
rs7559294	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7559399	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7560222	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562306	0.82[EUR][1000 genomes]
rs7570588	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7573629	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7582996	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7583013	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.89[TSI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7585863	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7592525	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595734	1.00[CEU][hapmap];0.87[GIH][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7595823	0.81[CEU][hapmap]
rs7599531	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604044	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608939	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7609209	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7609428	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs764299	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896636	1.00[CEU][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs921554	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs921555	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs930746	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs966317	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9679132	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9789442	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9789446	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9789586	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9789678	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208890800-208899400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:208891000-208904200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:208891000-208905400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:208895200-208899200	Enhancers	Placenta	Placenta
5	chr2:208896600-208901000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:208896600-208907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:208896800-208898600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:208896800-208898600	Weak transcription	HMEC	breast
9	chr2:208897600-208898600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:208898000-208899800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:208898200-208898600	Enhancers	Fetal Intestine Large	intestine
12	chr2:208898400-208899000	Enhancers	Liver	Liver
13	chr2:208898400-208899200	Enhancers	GM12878-XiMat	blood
14	chr2:208898400-208899400	Flanking Active TSS	HepG2	liver
15	chr2:208898400-208899600	Enhancers	Hela-S3	cervix

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