Variant report

Variant	rs10957764
Chromosome Location	chr8:50968942-50968943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1000638	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1000639	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10096871	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10098057	0.95[CEU][hapmap]
rs10504094	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10504096	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10504098	0.95[CEU][hapmap]
rs10957802	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10957813	0.95[CEU][hapmap]
rs10957814	0.95[CEU][hapmap]
rs11778998	0.95[CEU][hapmap]
rs11781074	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]
rs11986160	0.95[CEU][hapmap]
rs11991940	0.95[CEU][hapmap]
rs12541488	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[YRI][hapmap]
rs12541543	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs12541852	1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs12542067	0.95[CEU][hapmap]
rs12544986	0.94[CEU][hapmap]
rs12545107	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545263	0.89[EUR][1000 genomes]
rs12548940	1.00[CHB][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs13251700	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13255893	1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs13260265	0.95[CEU][hapmap]
rs13270234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13270712	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs13271983	0.99[EUR][1000 genomes]
rs13273543	0.82[ASN][1000 genomes]
rs13280089	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13340639	0.83[CEU][hapmap]
rs16914346	0.95[CEU][hapmap]
rs17685307	0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs17686196	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];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903311	1.00[CEU][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs2106156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2157736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34047312	0.90[EUR][1000 genomes]
rs34641787	0.91[EUR][1000 genomes]
rs34908792	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35093761	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35122483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35418717	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35609530	0.82[ASN][1000 genomes]
rs35989044	1.00[EUR][1000 genomes]
rs4873128	0.95[CEU][hapmap]
rs4873129	0.95[CEU][hapmap]
rs4873405	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4873406	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4873407	0.90[EUR][1000 genomes]
rs4873408	0.95[CEU][hapmap]
rs4873411	0.95[CEU][hapmap]
rs4873415	0.95[CEU][hapmap]
rs4873417	0.95[CEU][hapmap]
rs4873418	0.95[CEU][hapmap]
rs4873419	0.95[CEU][hapmap]
rs4873420	0.95[CEU][hapmap]
rs4873421	0.95[CEU][hapmap]
rs55743661	0.82[ASN][1000 genomes]
rs55760013	0.82[ASN][1000 genomes]
rs56413317	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62516686	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6472947	0.91[EUR][1000 genomes]
rs66541944	0.82[ASN][1000 genomes]
rs67043411	0.82[ASN][1000 genomes]
rs6986896	0.95[CEU][hapmap]
rs6988843	0.95[CEU][hapmap]
rs6996646	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6999722	0.94[CEU][hapmap]
rs6999870	0.95[CEU][hapmap]
rs7001686	0.95[CEU][hapmap]
rs7002235	0.95[CEU][hapmap]
rs7004088	0.95[CEU][hapmap]
rs7013995	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7016161	0.95[CEU][hapmap]
rs721441	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7820951	0.95[EUR][1000 genomes]
rs7825063	0.95[CEU][hapmap]
rs870754	0.95[CEU][hapmap]
rs884561	0.95[CEU][hapmap]
rs898520	0.95[CEU][hapmap]
rs9298278	0.95[CEU][hapmap]
rs9298279	0.95[CEU][hapmap]
rs9650160	1.00[CHD][hapmap];0.81[MEX][hapmap]
rs987356	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2757272	chr8:50873293-50968942	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv611312	chr8:50930075-51011122	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv890871	chr8:50936174-51040022	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv890872	chr8:50946702-51032813	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10957764	EFCAB1	cis	parietal	SCAN
rs10957764	SNTG1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50952800-50969800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:50965400-50969600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:50967200-50969200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:50967200-50970200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:50967400-50969200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:50967400-50969800	Enhancers	NH-A	brain
7	chr8:50967400-50970400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:50967400-50970400	Enhancers	HSMM	muscle
9	chr8:50967400-50970800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:50967400-50971000	Enhancers	NHDF-Ad	bronchial
11	chr8:50967400-50971200	Enhancers	HMEC	breast
12	chr8:50967400-50971600	Enhancers	NHLF	lung
13	chr8:50967600-50969000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:50967600-50970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:50967600-50970400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:50968000-50969400	Enhancers	Ovary	ovary
17	chr8:50968000-50970000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:50968000-50970000	Enhancers	Fetal Stomach	stomach
19	chr8:50968000-50970400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:50968000-50970400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:50968000-50971600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:50968200-50969400	Enhancers	Brain Germinal Matrix	brain
23	chr8:50968400-50970200	Enhancers	HSMMtube	muscle
24	chr8:50968400-50970600	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:50968600-50969000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:50968600-50969000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:50968600-50969400	Flanking Active TSS	Osteobl	bone
28	chr8:50968600-50969600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:50968600-50969800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:50968600-50970000	Flanking Active TSS	Hela-S3	cervix
31	chr8:50968600-50970200	Enhancers	Dnd41	blood
32	chr8:50968800-50969000	Enhancers	HUVEC	blood vessel
33	chr8:50968800-50969200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:50968800-50969400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:50968800-50969400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:50968800-50969800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:50968800-50970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:50968800-50970000	Enhancers	Colon Smooth Muscle	Colon
39	chr8:50968800-50970200	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:50968800-50970200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:50968800-50970400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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