Variant report

Variant	rs7839523
Chromosome Location	chr8:131281826-131281827
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131281505..131283976-chr8:131286919..131289472,2	K562	blood:
2	chr8:131279813..131282288-chr8:131286775..131289036,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10089819	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[MEX][hapmap]
rs10091450	0.91[CHD][hapmap];0.84[MEX][hapmap]
rs10100892	0.88[CHD][hapmap]
rs1123205	0.89[CHD][hapmap]
rs1158569	0.82[CEU][hapmap];0.84[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs1158570	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774633	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11774659	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1340021	0.89[CHD][hapmap]
rs1340022	0.89[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap]
rs1538728	0.89[CHD][hapmap]
rs1978550	0.89[CHD][hapmap]
rs2185366	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2554369	0.84[MEX][hapmap]
rs2670885	0.82[CHB][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2670891	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2791342	0.88[MEX][hapmap]
rs2894508	0.87[CHD][hapmap]
rs2943086	0.84[MEX][hapmap]
rs3057	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4733572	0.89[CHD][hapmap]
rs4733768	0.82[CHD][hapmap]
rs6470801	0.85[CHD][hapmap];0.84[MEX][hapmap]
rs6470816	0.84[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs6984963	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6985563	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7002892	0.89[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7003309	0.83[MEX][hapmap]
rs7460225	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7464885	0.82[CHD][hapmap]
rs7817803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7846376	0.83[LWK][hapmap];0.88[MEX][hapmap]
rs9297805	0.83[CHD][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:131270600-131291200	Weak transcription	Liver	Liver
5	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
6	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:131276800-131282000	Enhancers	NHDF-Ad	bronchial
9	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
10	chr8:131277000-131282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:131277000-131288200	Weak transcription	K562	blood
12	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
13	chr8:131277600-131282200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
16	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
17	chr8:131278600-131282000	Weak transcription	Lung	lung
18	chr8:131278600-131282200	Enhancers	A549	lung
19	chr8:131278600-131283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:131278600-131283200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:131278800-131283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:131279000-131282800	Weak transcription	HMEC	breast
25	chr8:131279200-131282600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:131279400-131282000	Enhancers	Rectal Smooth Muscle	rectum
27	chr8:131279600-131282000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:131279600-131282400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:131279600-131282400	Enhancers	Fetal Stomach	stomach
30	chr8:131279600-131282600	Enhancers	Colon Smooth Muscle	Colon
31	chr8:131279600-131282600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr8:131279600-131282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:131279600-131284000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:131279800-131282400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:131279800-131282400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:131279800-131282400	Enhancers	Adipose Nuclei	Adipose
37	chr8:131279800-131283600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131280000-131282200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:131280000-131282200	Enhancers	Ovary	ovary
40	chr8:131280000-131282400	Enhancers	Brain Substantia Nigra	brain
41	chr8:131280000-131282400	Enhancers	Right Atrium	heart
42	chr8:131280000-131282600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr8:131280000-131282600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:131280200-131282200	Genic enhancers	HSMM	muscle
45	chr8:131280400-131283200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:131280400-131283800	Enhancers	NHLF	lung
47	chr8:131280600-131282400	Enhancers	Fetal Heart	heart
48	chr8:131280600-131283600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:131280600-131286200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:131280600-131286400	Weak transcription	Primary monocytes fromperipheralblood	blood

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