Variant report

Variant	rs4777517
Chromosome Location	chr15:72875842-72875843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72875838-72883343	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72875535..72877060-chr15:72880584..72882682,2	K562	blood:
2	chr15:72871985..72876083-chr15:72877411..72879866,3	K562	blood:

Variant related genes	Relation type
MIR630	TF binding region
ENSG00000207690	Chromatin interaction
ENSG00000260534	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10438370	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10518988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10851858	0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs11072372	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11072376	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1133316	0.81[ASW][hapmap];0.85[MEX][hapmap]
rs11638897	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12439018	0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs12439127	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12900846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12901966	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12917453	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13379630	0.82[JPT][hapmap]
rs1562250	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16956899	0.88[JPT][hapmap]
rs16956988	1.00[JPT][hapmap]
rs16957064	0.90[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]
rs16957189	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs1808495	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1812842	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1963894	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2278694	0.87[ASW][hapmap];0.88[YRI][hapmap]
rs2415135	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2415136	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2415137	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2415141	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28429820	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435710	0.89[EUR][1000 genomes]
rs28607101	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654703	0.84[ASN][1000 genomes]
rs3842946	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4078785	0.84[AMR][1000 genomes]
rs4146286	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4776602	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4776603	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4777514	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4777516	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4777520	0.84[AMR][1000 genomes]
rs56159226	0.81[AMR][1000 genomes]
rs6495011	0.86[AMR][1000 genomes]
rs7174825	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs7175376	0.90[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]
rs7177472	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72735185	0.82[EUR][1000 genomes]
rs72735188	0.82[EUR][1000 genomes]
rs72735194	0.89[EUR][1000 genomes]
rs73446615	0.91[ASN][1000 genomes]
rs73446634	0.91[ASN][1000 genomes]
rs8023504	0.82[EUR][1000 genomes]
rs8024715	0.90[CEU][hapmap]
rs8025088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8026681	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8027871	0.84[ASN][1000 genomes]
rs8036623	0.83[ASN][1000 genomes]
rs8036629	0.83[ASN][1000 genomes]
rs8037282	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8038734	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv569947	chr15:72800853-72878772	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv569948	chr15:72811402-72878772	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv521972	chr15:72859770-72878772	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72829200-72880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:72835200-72876000	Weak transcription	Pancreas	Pancrea
3	chr15:72841000-72909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:72846600-72878400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:72847000-72878400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr15:72847800-72878000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:72847800-72878400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:72850200-72880800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:72851400-72877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:72852000-72878800	Strong transcription	Placenta	Placenta
11	chr15:72852800-72878400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:72853600-72879800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:72854400-72879400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:72855200-72878400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:72855800-72879800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:72856000-72876000	Weak transcription	Esophagus	oesophagus
17	chr15:72857400-72878400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:72857400-72881000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:72858200-72878600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:72858400-72878200	Strong transcription	Primary T cells from cord blood	blood
21	chr15:72859200-72880000	Strong transcription	Liver	Liver
22	chr15:72861000-72878800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:72861200-72877400	Strong transcription	Dnd41	blood
24	chr15:72861400-72880000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr15:72862000-72877200	Strong transcription	HUVEC	blood vessel
26	chr15:72862400-72876600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr15:72862400-72878400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:72866400-72877600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:72866400-72878400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr15:72866600-72878400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:72866800-72879400	Strong transcription	GM12878-XiMat	blood
32	chr15:72867800-72877800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:72868200-72879400	Strong transcription	HSMM	muscle
34	chr15:72868400-72876600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:72869000-72878000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr15:72869200-72876400	Strong transcription	Left Ventricle	heart
37	chr15:72869600-72876800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:72869600-72877400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:72869800-72878400	Strong transcription	Fetal Thymus	thymus
40	chr15:72870000-72877400	Strong transcription	Ovary	ovary
41	chr15:72870000-72877600	Strong transcription	Rectal Smooth Muscle	rectum
42	chr15:72870000-72877800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr15:72870000-72878400	Strong transcription	Primary B cells from cord blood	blood
44	chr15:72870000-72878400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:72870000-72878400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:72870000-72879800	Strong transcription	NH-A	brain
47	chr15:72870200-72878400	Strong transcription	HMEC	breast
48	chr15:72870200-72878600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr15:72870400-72877600	Strong transcription	Fetal Lung	lung
50	chr15:72870400-72878400	Strong transcription	HepG2	liver

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