Variant report

Variant	rs959370
Chromosome Location	chr8:121275761-121275762
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	chr8:121270244..121271851-chr8:121273792..121276253,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10092516	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10100841	0.91[CHB][hapmap]
rs10955968	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11781559	0.91[CHB][hapmap];0.82[CHD][hapmap];0.86[ASN][1000 genomes]
rs11781561	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11783320	0.91[CHB][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]
rs12678188	0.85[CHB][hapmap]
rs12678374	0.90[CHB][hapmap]
rs1531131	0.91[CHB][hapmap]
rs1563388	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563389	0.91[CHB][hapmap]
rs1869831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1869832	0.91[CHB][hapmap]
rs1993390	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1993391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2100540	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2124470	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2198748	0.91[CHB][hapmap]
rs2219240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2219241	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2219242	0.91[CHB][hapmap]
rs2290520	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28529014	0.82[ASN][1000 genomes]
rs4279641	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871055	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871056	0.91[CHB][hapmap]
rs4871057	0.95[CHB][hapmap]
rs57514813	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6469905	0.91[CHB][hapmap]
rs6469909	0.91[CHB][hapmap]
rs6469910	0.91[CHB][hapmap]
rs6469911	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469912	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469913	0.91[CHB][hapmap]
rs6469915	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983911	0.91[CHB][hapmap]
rs6994888	0.91[CHB][hapmap]
rs7003797	0.90[CHB][hapmap]
rs7004099	0.91[CHB][hapmap]
rs7006048	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006555	0.91[CHB][hapmap]
rs7010688	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017945	0.91[CHB][hapmap]
rs7341686	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7814222	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7817097	0.91[CHB][hapmap]
rs7817682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7819160	0.91[CHB][hapmap]
rs7827901	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7829213	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs7830625	0.91[CHB][hapmap]
rs7834446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7835757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7839121	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7844334	0.91[CHB][hapmap]
rs7844938	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs959370	SNTB1	cis	parietal	SCAN
rs959370	SLC30A8	cis	cerebellum	SCAN
rs959370	MAL2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121254600-121278400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:121254800-121278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:121255400-121278400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:121262800-121283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:121265800-121278600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:121267800-121283400	Weak transcription	Aorta	Aorta
7	chr8:121270400-121276600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:121270800-121277600	Weak transcription	HSMMtube	muscle
9	chr8:121271200-121283600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:121272600-121283800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:121273000-121281400	Weak transcription	Left Ventricle	heart
12	chr8:121273200-121279800	Weak transcription	Placenta	Placenta
13	chr8:121274000-121276200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:121274400-121276400	Enhancers	Fetal Lung	lung
15	chr8:121275000-121275800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:121275000-121275800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:121275000-121276400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:121275000-121276800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:121275200-121276200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:121275200-121276200	Enhancers	Osteobl	bone
21	chr8:121275400-121275800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:121275400-121275800	Enhancers	Fetal Kidney	kidney
23	chr8:121275400-121275800	Enhancers	Ovary	ovary
24	chr8:121275400-121275800	Flanking Active TSS	NHDF-Ad	bronchial
25	chr8:121275400-121276000	Enhancers	Adipose Nuclei	Adipose
26	chr8:121275400-121276000	Enhancers	Rectal Smooth Muscle	rectum
27	chr8:121275400-121276200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121275400-121276200	Enhancers	NHLF	lung
29	chr8:121275400-121277400	Enhancers	Colon Smooth Muscle	Colon
30	chr8:121275600-121275800	Enhancers	Fetal Muscle Leg	muscle
31	chr8:121275600-121275800	Enhancers	Psoas Muscle	Psoas
32	chr8:121275600-121276000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:121275600-121293400	Weak transcription	Fetal Stomach	stomach

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