Variant report

Variant	rs1057964
Chromosome Location	chr5:95235627-95235628
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	chr5:95235464-95235869	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:95235587-95235817	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:95235509-95235955	GM12892	blood:	n/a	n/a
4	POLR2A	chr5:95235626-95235886	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ELL2	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10035477	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs10052503	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs10069748	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[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];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070197	0.95[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073752	0.83[CHB][hapmap]
rs1043381	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10515232	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs1057963	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11135441	0.90[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11135442	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs11738768	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11738945	0.89[CEU][hapmap]
rs11739652	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11741563	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11741590	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[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];1.00[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742959	0.89[CEU][hapmap]
rs11744881	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13361341	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13361837	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423269	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1458017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1458018	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1458019	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs147295	1.00[ASW][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs154460	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17085231	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs17085249	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17085266	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17085333	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs1841010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015159	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2042340	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2161318	0.91[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap]
rs2270554	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2546191	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2546199	0.91[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap]
rs2547997	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2548594	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[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];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2829	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777162	0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap]
rs3777163	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs3777165	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs3777166	0.83[CHB][hapmap]
rs3777171	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs3777173	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs3777175	0.83[CHB][hapmap]
rs3777178	0.83[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs3777179	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap]
rs3777182	0.90[EUR][1000 genomes]
rs3777183	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs3777184	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777185	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777188	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777189	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777190	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777192	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777193	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777196	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[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];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777200	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777201	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777202	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777203	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777207	0.80[CEU][hapmap]
rs3777208	0.96[EUR][1000 genomes]
rs3815768	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4563648	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4642392	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56156268	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56219066	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6556893	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6861531	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs6877329	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6879652	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6881872	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs6885567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6889029	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6890954	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7700895	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs7702674	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7705279	0.87[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs7716691	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724599	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs889302	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9314162	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs967546	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9986236	0.94[EUR][1000 genomes];0.92[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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1057964	ERAP1	cis	cerebellum	SCAN
rs1057964	ELL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
6	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:95219800-95244400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:95220000-95242000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:95220000-95245200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:95220400-95236800	Strong transcription	HMEC	breast
11	chr5:95220600-95236200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:95220600-95243200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:95220800-95237200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:95220800-95237200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:95220800-95240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:95221000-95236600	Strong transcription	NH-A	brain
17	chr5:95221400-95236200	Strong transcription	HSMM	muscle
18	chr5:95221600-95235800	Strong transcription	Osteobl	bone
19	chr5:95221600-95252200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:95222000-95241600	Strong transcription	GM12878-XiMat	blood
21	chr5:95222000-95252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:95223000-95259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:95223400-95237600	Strong transcription	Placenta	Placenta
24	chr5:95223800-95237000	Strong transcription	NHEK	skin
25	chr5:95224000-95237600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:95224200-95237600	Weak transcription	Stomach Mucosa	stomach
27	chr5:95225000-95236400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:95226000-95236600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:95226000-95237600	Weak transcription	Fetal Kidney	kidney
30	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
31	chr5:95227400-95236000	Strong transcription	Hela-S3	cervix
32	chr5:95227400-95251600	Weak transcription	Primary T cells from cord blood	blood
33	chr5:95227400-95253800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:95227600-95236400	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:95227600-95242400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:95227600-95244600	Weak transcription	Small Intestine	intestine
37	chr5:95229600-95236000	Strong transcription	NHDF-Ad	bronchial
38	chr5:95229600-95236600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:95229600-95236600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:95229800-95235800	Strong transcription	Adipose Nuclei	Adipose
41	chr5:95230600-95236600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:95230800-95236800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:95230800-95237800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:95231000-95236800	Strong transcription	HUVEC	blood vessel
45	chr5:95231200-95254000	Weak transcription	Fetal Stomach	stomach
46	chr5:95231800-95237400	Weak transcription	Right Atrium	heart
47	chr5:95231800-95239600	Weak transcription	Left Ventricle	heart
48	chr5:95231800-95242200	Weak transcription	Pancreas	Pancrea
49	chr5:95231800-95242400	Weak transcription	Right Ventricle	heart
50	chr5:95231800-95243200	Weak transcription	Lung	lung

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