Variant report

Variant	rs3765162
Chromosome Location	chr8:62559133-62559134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:62559096-62559833	U87	brain:	n/a	n/a
2	POLR2A	chr8:62559047-62559888	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62557685..62559210-chr8:62625796..62627567,2	MCF-7	breast:
2	chr8:62556212..62561291-chr8:62561297..62565937,6	K562	blood:

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10957196	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11775077	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11782345	0.95[CEU][hapmap]
rs11786863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11787089	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11990408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11997478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16918887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546883	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882460	0.80[EUR][1000 genomes]
rs55720422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61430496	0.97[EUR][1000 genomes]
rs6471964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7016408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017995	0.80[EUR][1000 genomes]
rs72659015	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72659032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659034	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72659056	0.81[AFR][1000 genomes]
rs7812327	0.84[JPT][hapmap]
rs7812552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7825861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
2	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
4	chr8:62532600-62565600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:62534400-62561000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:62534800-62564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:62534800-62564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:62535400-62566800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:62536200-62564800	Strong transcription	NH-A	brain
11	chr8:62536400-62562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:62537200-62561000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:62539800-62559600	Genic enhancers	A549	lung
14	chr8:62540200-62561000	Weak transcription	Brain Germinal Matrix	brain
15	chr8:62540400-62562200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:62540600-62566000	Strong transcription	Osteobl	bone
17	chr8:62541000-62563800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:62542200-62565000	Strong transcription	Adipose Nuclei	Adipose
19	chr8:62542600-62561000	Weak transcription	Fetal Thymus	thymus
20	chr8:62542600-62565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:62542600-62567000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
23	chr8:62543800-62565000	Strong transcription	Hela-S3	cervix
24	chr8:62544200-62559400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:62544600-62573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:62547600-62559600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:62547800-62565000	Strong transcription	HSMM	muscle
28	chr8:62548400-62567200	Strong transcription	NHDF-Ad	bronchial
29	chr8:62548600-62560800	Strong transcription	Liver	Liver
30	chr8:62548800-62559600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:62548800-62561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:62549600-62559400	Weak transcription	GM12878-XiMat	blood
33	chr8:62549800-62563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:62550200-62559600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr8:62550400-62559200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:62550400-62561200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:62550400-62564200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:62550400-62571400	Weak transcription	Right Ventricle	heart
39	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
40	chr8:62550600-62559600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:62550600-62559800	Weak transcription	Fetal Brain Female	brain
42	chr8:62550600-62561400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:62550600-62562000	Weak transcription	Brain Angular Gyrus	brain
44	chr8:62550600-62585800	Weak transcription	Esophagus	oesophagus
45	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:62552200-62562200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:62552400-62567200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:62552400-62590600	Weak transcription	Primary T cells from cord blood	blood
49	chr8:62553000-62565600	Weak transcription	Fetal Heart	heart
50	chr8:62553000-62567000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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