Variant report

Variant	rs8136147
Chromosome Location	chr22:30304234-30304235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
2	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:
3	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
4	chr22:30303958..30305806-chr22:30307869..30310153,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1071888	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1076137	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs12168552	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12171061	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12537	0.80[CEU][hapmap]
rs131278	0.87[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.80[YRI][hapmap]
rs131291	0.84[ASW][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.80[YRI][hapmap]
rs131296	0.87[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs140105	0.82[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap]
rs140108	0.82[CEU][hapmap];0.88[JPT][hapmap]
rs140135	0.87[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs140151	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap]
rs17643918	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1807509	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs193473	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs193481	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2017677	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051764	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2105870	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2349225	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs2412960	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2412963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28257	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34862234	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35705048	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36578	0.88[JPT][hapmap]
rs36580	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36586	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36590	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36591	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36594	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36596	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36598	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36600	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36601	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36604	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36605	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36606	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3887275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3958025	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.80[YRI][hapmap];0.82[EUR][1000 genomes]
rs39712	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41162	0.84[ASW][hapmap];0.95[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41164	0.91[CEU][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs41166	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41172	0.83[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap]
rs41174	0.86[CEU][hapmap]
rs41175	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41179	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4239932	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820820	0.83[EUR][1000 genomes]
rs4820822	0.85[EUR][1000 genomes]
rs4823055	0.82[EUR][1000 genomes]
rs4823063	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4993442	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752968	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.80[YRI][hapmap];0.83[EUR][1000 genomes]
rs5752986	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752988	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5752993	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763630	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763634	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763644	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763674	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763675	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763680	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763689	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763691	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs715523	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs718772	0.84[ASW][hapmap];0.95[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs7286070	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7292615	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737904	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs737909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737912	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7510705	0.81[AMR][1000 genomes]
rs8139994	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141404	0.95[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs8141680	0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9620926	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620943	0.81[AMR][1000 genomes]
rs9625873	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625874	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625878	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9625879	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9625919	0.95[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]

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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8136147	KIAA1671	cis	cerebellum	SCAN
rs8136147	CRYBB3	cis	parietal	SCAN
rs8136147	MTMR3	cis	parietal	SCAN
rs8136147	TTC28	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
4	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr22:30299800-30308400	Weak transcription	Lung	lung
10	chr22:30300400-30307000	Weak transcription	Spleen	Spleen
11	chr22:30301400-30308000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr22:30302000-30304400	Enhancers	Right Ventricle	heart
13	chr22:30302200-30308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:30302200-30308400	Weak transcription	Gastric	stomach
15	chr22:30302800-30304600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:30302800-30305200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:30303000-30304400	Enhancers	Psoas Muscle	Psoas
18	chr22:30303000-30304600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr22:30303000-30304600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr22:30303000-30304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:30303000-30304800	Enhancers	Fetal Heart	heart
22	chr22:30303000-30305200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:30303000-30305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:30303200-30304400	Enhancers	Liver	Liver
25	chr22:30303200-30304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:30303200-30304600	Enhancers	Fetal Muscle Leg	muscle
27	chr22:30303200-30304800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:30303200-30304800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr22:30303200-30305200	Enhancers	Ovary	ovary
30	chr22:30303200-30305400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr22:30303400-30304400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:30303400-30304400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr22:30303400-30304400	Enhancers	Brain Hippocampus Middle	brain
34	chr22:30303400-30304400	Enhancers	Rectal Smooth Muscle	rectum
35	chr22:30303400-30304400	Enhancers	NHDF-Ad	bronchial
36	chr22:30303400-30304600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:30303400-30304600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30303400-30304600	Enhancers	Adipose Nuclei	Adipose
39	chr22:30303400-30304600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr22:30303400-30304600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr22:30303400-30304600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr22:30303400-30304600	Enhancers	HepG2	liver
43	chr22:30303400-30304600	Enhancers	HSMMtube	muscle
44	chr22:30303400-30304600	Enhancers	HUVEC	blood vessel
45	chr22:30303400-30304800	Enhancers	Brain Substantia Nigra	brain
46	chr22:30303400-30304800	Enhancers	Fetal Lung	lung
47	chr22:30303400-30304800	Enhancers	HMEC	breast
48	chr22:30303400-30304800	Enhancers	HSMM	muscle
49	chr22:30303400-30305400	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:30303400-30305600	Enhancers	Fetal Intestine Small	intestine

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