Variant report

Variant	rs431264
Chromosome Location	chr8:90777510-90777511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90774651..90777545-chr8:90807253..90809374,2	MCF-7	breast:
2	chr8:90776459..90778873-chr8:90786925..90789865,2	K562	blood:
3	chr8:90777239..90779666-chr8:90788389..90789949,2	MCF-7	breast:
4	chr8:90775966..90778463-chr8:90780267..90782442,2	K562	blood:
5	chr8:90776996..90779563-chr8:90782705..90784439,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1003843	0.91[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10095743	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10112852	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10504882	0.89[YRI][hapmap]
rs10504883	0.84[YRI][hapmap]
rs13252013	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13252917	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13259882	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13279023	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16900480	0.89[YRI][hapmap]
rs16900484	0.89[YRI][hapmap]
rs16900589	0.89[YRI][hapmap]
rs16900592	0.89[YRI][hapmap]
rs16900617	0.80[LWK][hapmap];0.84[YRI][hapmap]
rs218895	0.80[EUR][1000 genomes]
rs218899	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs218900	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs218901	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs218902	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs218903	0.87[CEU][hapmap]
rs218905	0.91[EUR][1000 genomes]
rs218907	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218908	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218909	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218910	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218913	0.91[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs218914	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218925	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218929	0.91[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218932	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218934	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218936	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218944	0.80[EUR][1000 genomes]
rs218946	0.81[EUR][1000 genomes]
rs218947	0.81[EUR][1000 genomes]
rs2644021	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2644033	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735870	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735871	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735873	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735878	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735882	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs383592	1.00[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs385524	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs39499	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39500	0.91[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39503	0.86[GIH][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39504	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39505	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39506	0.91[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39509	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39761	0.91[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs400411	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40246	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs40247	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs402886	0.91[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs40452	0.91[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs40453	0.82[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40544	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40545	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs40546	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs405734	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs411279	0.82[GIH][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs416324	0.82[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs419754	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs42490	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.92[TSI][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]
rs43134	0.91[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs43225	0.91[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs447618	0.91[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs454441	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs51331	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470366	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67143546	0.91[EUR][1000 genomes]
rs6992985	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6993133	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6998044	0.89[YRI][hapmap]
rs7010806	0.89[YRI][hapmap]

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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs431264	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs431264	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:90771800-90784400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
5	chr8:90772000-90778000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:90772000-90778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:90772000-90784600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:90772000-90785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:90772000-90785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:90772000-90796800	Weak transcription	Lung	lung
11	chr8:90772000-90797000	Weak transcription	Ovary	ovary
12	chr8:90772200-90777600	Weak transcription	Placenta	Placenta
13	chr8:90772200-90778000	Weak transcription	Fetal Kidney	kidney
14	chr8:90772200-90778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:90772200-90778200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:90772200-90778200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:90772200-90783600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:90772200-90783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:90772200-90784600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:90772200-90785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:90772200-90785600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
23	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
24	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
25	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
26	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
27	chr8:90772400-90777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:90772400-90777600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:90772400-90778200	Weak transcription	Fetal Intestine Large	intestine
30	chr8:90772400-90778200	Weak transcription	Fetal Lung	lung
31	chr8:90772400-90784000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:90772400-90784600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:90772400-90784800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:90772400-90784800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:90772400-90785200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:90772400-90787200	Weak transcription	Fetal Stomach	stomach
37	chr8:90772400-90790600	Weak transcription	NHEK	skin
38	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:90772600-90777800	Weak transcription	Liver	Liver
40	chr8:90772600-90784400	Weak transcription	Left Ventricle	heart
41	chr8:90773000-90783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:90773000-90784400	Weak transcription	HSMMtube	muscle
43	chr8:90773000-90785200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:90773000-90785200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:90773200-90777800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:90773200-90778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:90773200-90778200	Weak transcription	Brain Angular Gyrus	brain
50	chr8:90773200-90799000	Weak transcription	H1 Cell Line	embryonic stem cell

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