Variant report

Variant	rs9656842
Chromosome Location	chr8:99612867-99612868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99610760..99613076-chr8:99616322..99619231,2	K562	blood:
2	chr8:99607382..99608915-chr8:99611725..99614614,2	K562	blood:
3	chr8:99610770..99613655-chr8:99614678..99619231,4	K562	blood:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction
ENSG00000253911	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10447977	0.82[GIH][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes]
rs10755896	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10755897	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[GIH][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10955186	0.85[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955187	0.85[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955188	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955189	0.81[AMR][1000 genomes]
rs10955190	0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11774463	0.84[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11775055	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11778767	0.88[TSI][hapmap]
rs11780292	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11780369	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11780500	0.85[TSI][hapmap]
rs12114834	0.88[TSI][hapmap]
rs12541317	0.93[YRI][hapmap]
rs12542022	0.82[JPT][hapmap]
rs12542069	0.85[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12542758	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547297	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12549803	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12550783	0.85[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12677183	0.85[ASW][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679268	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12679734	0.82[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs12680195	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12680490	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12680602	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258214	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13269932	0.89[LWK][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes]
rs13271844	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13275372	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13275915	0.90[TSI][hapmap];0.80[AMR][1000 genomes]
rs13279438	0.80[AMR][1000 genomes]
rs16897061	0.82[JPT][hapmap]
rs2515214	0.93[TSI][hapmap]
rs34114299	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34281206	0.80[AMR][1000 genomes]
rs34366206	0.82[GIH][hapmap];0.92[TSI][hapmap]
rs34477118	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35447893	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35536167	0.80[AMR][1000 genomes]
rs35798019	0.90[TSI][hapmap]
rs4131873	0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4255105	0.82[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs4279561	0.90[TSI][hapmap];0.80[AMR][1000 genomes]
rs4292660	0.84[TSI][hapmap]
rs4370499	0.82[JPT][hapmap]
rs4413739	0.88[YRI][hapmap]
rs4440607	0.80[AMR][1000 genomes]
rs4442112	0.91[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4509292	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4517094	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4549741	0.90[TSI][hapmap];0.80[AMR][1000 genomes]
rs4562286	0.93[TSI][hapmap];0.94[YRI][hapmap]
rs4734410	0.82[JPT][hapmap];0.89[LWK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4735568	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735569	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4735570	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735571	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4735574	0.90[TSI][hapmap]
rs57034072	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62535381	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62535382	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62535383	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62535404	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62535408	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62535410	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62535412	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6651182	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67186645	0.87[ASN][1000 genomes]
rs6988087	0.86[TSI][hapmap]
rs6992925	0.81[JPT][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes]
rs7016626	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7818010	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818828	0.81[TSI][hapmap]
rs7845271	0.81[TSI][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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99587200-99613200	Weak transcription	GM12878-XiMat	blood
2	chr8:99588000-99616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:99588200-99615200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:99601400-99616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:99602800-99613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:99602800-99614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:99602800-99615000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:99602800-99622800	Weak transcription	Esophagus	oesophagus
9	chr8:99603000-99616000	Weak transcription	Fetal Stomach	stomach
10	chr8:99603000-99635600	Weak transcription	Lung	lung
11	chr8:99606600-99615800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:99606800-99616200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:99606800-99635800	Weak transcription	Aorta	Aorta
14	chr8:99606800-99637400	Weak transcription	Ovary	ovary
15	chr8:99607200-99613000	Enhancers	Fetal Intestine Large	intestine
16	chr8:99608400-99614400	Weak transcription	Gastric	stomach
17	chr8:99608400-99616600	Weak transcription	Liver	Liver
18	chr8:99609200-99613000	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:99610000-99613000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr8:99610000-99613000	Enhancers	A549	lung
21	chr8:99610400-99615600	Enhancers	HMEC	breast
22	chr8:99610600-99613400	Enhancers	NHEK	skin
23	chr8:99610600-99614000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:99611000-99616200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:99611200-99613000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:99611200-99614000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:99611600-99613600	Weak transcription	HSMM	muscle
28	chr8:99611800-99613600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:99611800-99613600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:99611800-99613600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:99611800-99613600	Weak transcription	NH-A	brain
32	chr8:99611800-99613600	Weak transcription	NHDF-Ad	bronchial
33	chr8:99611800-99613600	Weak transcription	Osteobl	bone
34	chr8:99611800-99614000	Weak transcription	Hela-S3	cervix
35	chr8:99611800-99639800	Weak transcription	Small Intestine	intestine
36	chr8:99612000-99613200	Enhancers	Brain Anterior Caudate	brain
37	chr8:99612200-99614000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:99612400-99613200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:99612400-99613200	Enhancers	Brain Germinal Matrix	brain
40	chr8:99612600-99613200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:99612600-99613800	Weak transcription	Brain Angular Gyrus	brain
42	chr8:99612600-99613800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:99612600-99618600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:99612800-99613800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:99612800-99614000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:99612800-99614000	Weak transcription	Brain Hippocampus Middle	brain

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