Variant report

Variant	rs7464885
Chromosome Location	chr8:131179235-131179236
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	chr8:131166087..131168835-chr8:131177427..131180204,2	K562	blood:
2	chr8:131178586..131180202-chr8:131182476..131184187,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10089819	0.84[CHD][hapmap]
rs10091313	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs10113410	0.84[CHD][hapmap]
rs1017281	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10956511	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.89[ASN][1000 genomes]
rs10956514	0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap]
rs1118887	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs1123205	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs11774659	0.80[ASN][1000 genomes]
rs11774690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774947	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.85[ASN][1000 genomes]
rs11775292	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548888	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12549794	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13258946	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs13269464	0.80[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap]
rs1340021	0.89[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs1469288	0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1538728	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs16904191	0.81[JPT][hapmap]
rs17212137	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.88[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs1978550	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.87[ASN][1000 genomes]
rs2033059	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2123870	0.80[CHB][hapmap]
rs2554373	0.80[CHB][hapmap];0.87[MEX][hapmap]
rs2894508	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3057	0.84[CHD][hapmap]
rs3935174	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4733568	0.80[CHB][hapmap]
rs4733571	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs4733572	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs4733768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733770	0.98[ASN][1000 genomes]
rs4733775	0.88[CEU][hapmap];0.81[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733776	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733777	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4733780	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.85[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs62524640	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524650	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62525923	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470800	0.80[CHB][hapmap];0.92[CHD][hapmap];0.80[JPT][hapmap]
rs6470802	0.80[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap]
rs6470805	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6470815	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6988261	0.85[ASN][1000 genomes]
rs6992305	0.80[CHB][hapmap]
rs7012705	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7015970	0.80[CHB][hapmap]
rs7018225	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs72722365	0.84[ASN][1000 genomes]
rs7386417	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs7460225	0.82[CHD][hapmap]
rs7460645	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs7832651	0.93[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7833007	0.80[CHB][hapmap]
rs7839155	0.88[CEU][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap]
rs7839523	0.82[CHD][hapmap]
rs876575	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs9297805	0.82[CHD][hapmap]
rs9643252	0.81[CHB][hapmap]
rs966185	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
3	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
7	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:131152000-131181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:131152200-131182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
14	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
15	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
16	chr8:131157600-131180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:131162600-131189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
20	chr8:131164200-131186000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
22	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:131165800-131181600	Strong transcription	Adipose Nuclei	Adipose
24	chr8:131166200-131182200	Strong transcription	NH-A	brain
25	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
26	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:131167400-131181000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:131168000-131180000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:131168600-131181000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:131169600-131194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:131171400-131182000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr8:131172000-131185400	Weak transcription	Gastric	stomach
34	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
35	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:131172600-131186800	Weak transcription	Colonic Mucosa	Colon
37	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
39	chr8:131172800-131182600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
42	chr8:131173600-131206600	Weak transcription	Dnd41	blood
43	chr8:131174600-131192800	Weak transcription	HepG2	liver
44	chr8:131174600-131198800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:131175400-131181000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:131175800-131181000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:131175800-131182000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:131176400-131181000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:131176400-131181200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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