Variant report

Variant	rs7178250
Chromosome Location	chr15:77099107-77099108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77092193..77094695-chr15:77097938..77099629,2	K562	blood:

Variant related genes	Relation type
ENSG00000140386	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1011083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1011084	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10152247	0.82[EUR][1000 genomes]
rs10444809	0.83[ASN][1000 genomes]
rs10851888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10851889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10851892	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11072610	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11072611	0.82[CHB][hapmap]
rs11072612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072613	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs11072614	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs11072616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072618	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072619	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072620	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072626	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072628	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072632	0.82[CHB][hapmap]
rs11072636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11072637	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs11629727	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11630185	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs11630402	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11631082	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11631394	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11632670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11632765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11633309	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs11633869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11634266	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634428	0.83[CEU][hapmap];0.90[CHB][hapmap];0.82[AMR][1000 genomes]
rs11635273	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11636612	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs11637096	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs11637494	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11852395	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855296	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11855534	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11855644	0.83[CHB][hapmap]
rs12439141	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12440691	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12440965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592686	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12898416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12904149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12904417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12905181	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910081	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12910820	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12913024	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913730	0.86[ASN][1000 genomes]
rs12914196	0.81[EUR][1000 genomes]
rs12915184	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs1443115	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1484990	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1567671	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1809875	0.80[EUR][1000 genomes]
rs2137311	0.86[ASN][1000 genomes]
rs2280194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2404604	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2404734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28823285	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34215663	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34998733	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35374222	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35710279	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36114653	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3764245	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3812908	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3812909	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4312276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886819	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886823	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs4886837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55746932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56339024	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60702982	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62026898	0.82[EUR][1000 genomes]
rs62029232	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7165053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7181506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs8025991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs920712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9635380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv904407	chr15:76869929-77121196	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv457206	chr15:76971456-77121196	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv570110	chr15:76971456-77121196	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs7178250	ZNF291	cis	lesional skin	skin_eQTL
rs7178250	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs7178250	SCAPER	cis	Nerve Tibial	GTEx
rs7178250	SCAPER	cis	Adipose Subcutaneous	GTEx
rs7178250	ZNF291	cis	uninvolved skin	skin_eQTL
rs7178250	SCAPER	cis	lung	GTEx
rs7178250	ISL2	cis	Whole Blood	GTEx
rs7178250	SCAPER	cis	Stomach	GTEx
rs7178250	SCAPER	cis	Esophagus Muscularis	GTEx
rs7178250	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs7178250	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs7178250	SCAPER	cis	Esophagus Mucosa	GTEx
rs7178250	SCAPER	cis	Thyroid	GTEx
rs7178250	SCAPER	cis	Whole Blood	GTEx
rs7178250	SCAPER	cis	Artery Tibial	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77058000-77100200	Weak transcription	Fetal Brain Male	brain
2	chr15:77058000-77106000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:77073000-77101000	Weak transcription	Lung	lung
4	chr15:77073000-77101400	Weak transcription	Right Ventricle	heart
5	chr15:77073000-77109200	Weak transcription	Spleen	Spleen
6	chr15:77073000-77125000	Weak transcription	Pancreas	Pancrea
7	chr15:77078200-77103000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr15:77084000-77100400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:77084000-77100600	Weak transcription	GM12878-XiMat	blood
10	chr15:77084000-77100800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:77085400-77125000	Weak transcription	HSMM	muscle
12	chr15:77085800-77104400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:77086400-77100600	Weak transcription	Aorta	Aorta
14	chr15:77086400-77101600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:77086400-77111000	Weak transcription	Thymus	Thymus
16	chr15:77087400-77099200	Weak transcription	Fetal Kidney	kidney
17	chr15:77090600-77107800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:77092200-77100400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:77092800-77124800	Weak transcription	Ovary	ovary
20	chr15:77093200-77124800	Weak transcription	Primary B cells from cord blood	blood
21	chr15:77093800-77103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:77095800-77100400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:77096000-77100600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:77096000-77102000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr15:77096200-77100400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:77096200-77100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:77096200-77116400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:77096400-77113400	Weak transcription	Dnd41	blood
29	chr15:77096400-77116400	Weak transcription	Brain Angular Gyrus	brain
30	chr15:77096600-77099200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:77096600-77099600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr15:77096600-77101000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr15:77096600-77124800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:77096800-77101200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:77097000-77099200	Weak transcription	Fetal Intestine Large	intestine
36	chr15:77097000-77099400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:77097000-77100600	Weak transcription	Placenta	Placenta
38	chr15:77097000-77102000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr15:77097000-77107800	Weak transcription	Left Ventricle	heart
40	chr15:77097000-77113200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr15:77097000-77113200	Weak transcription	Primary T cells from cord blood	blood
42	chr15:77097400-77099200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:77097400-77100800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr15:77097400-77102000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr15:77098000-77104000	Weak transcription	HSMMtube	muscle

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