Variant report

Variant	rs3057
Chromosome Location	chr8:131329837-131329838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131324792..131327284-chr8:131328218..131332203,4	K562	blood:
2	chr8:131325475..131327284-chr8:131328530..131331527,2	MCF-7	breast:
3	chr8:131327964..131329913-chr8:131340492..131342664,2	K562	blood:
4	chr8:131324792..131327507-chr8:131328218..131332203,4	K562	blood:
5	chr8:131328726..131330955-chr8:131369323..131371352,2	MCF-7	breast:
6	chr8:131328562..131331530-chr8:131335260..131337875,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10089819	0.82[CHB][hapmap];0.89[CHD][hapmap];0.84[MEX][hapmap]
rs10091450	0.89[CHD][hapmap];0.84[MEX][hapmap]
rs10100892	0.92[CHD][hapmap]
rs10956511	0.82[CHD][hapmap]
rs1123205	0.86[CHD][hapmap]
rs1158569	0.85[CEU][hapmap];0.84[CHB][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1158570	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774633	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11774659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1340021	0.86[CHD][hapmap]
rs1340022	0.89[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.92[ASN][1000 genomes]
rs1538728	0.86[CHD][hapmap]
rs1978550	0.86[CHD][hapmap]
rs2185366	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2554369	0.84[MEX][hapmap]
rs2670885	0.82[CHB][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2670891	0.80[AFR][1000 genomes]
rs2791342	0.81[LWK][hapmap];0.88[MEX][hapmap]
rs2894508	0.89[CHD][hapmap]
rs2943086	0.81[CHD][hapmap];0.84[MEX][hapmap]
rs4733572	0.86[CHD][hapmap]
rs4733768	0.84[CHD][hapmap]
rs6470805	0.82[CHD][hapmap]
rs6470811	0.84[EUR][1000 genomes]
rs6470816	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6984963	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985563	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7002892	0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs7008182	0.84[EUR][1000 genomes]
rs7460225	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464885	0.84[CHD][hapmap]
rs7817803	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832651	0.80[CHD][hapmap]
rs7839523	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]
rs7846376	0.81[LWK][hapmap];0.88[MEX][hapmap];0.82[YRI][hapmap]
rs9297805	0.86[CHD][hapmap];0.94[LWK][hapmap];0.87[MEX][hapmap];0.82[YRI][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	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
2	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
3	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:131315600-131353400	Weak transcription	Dnd41	blood
5	chr8:131319400-131333600	Weak transcription	HepG2	liver
6	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
8	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131323600-131331600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:131325000-131330200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:131325200-131330000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:131325800-131332200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:131326000-131330600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:131326200-131330400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:131326200-131333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:131326400-131330000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:131326400-131330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:131326400-131330600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:131326400-131331000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:131326400-131331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:131326400-131333200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
26	chr8:131326600-131330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:131326600-131330200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:131326600-131333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:131326800-131336400	Weak transcription	Fetal Lung	lung
30	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:131327000-131330000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:131327000-131330000	Weak transcription	Placenta	Placenta
33	chr8:131327000-131330000	Weak transcription	K562	blood
34	chr8:131327000-131333400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:131327000-131333400	Weak transcription	Brain Germinal Matrix	brain
36	chr8:131327000-131333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:131327000-131334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:131327000-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:131327200-131330000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:131327200-131330000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:131327200-131330800	Weak transcription	Fetal Thymus	thymus
43	chr8:131327200-131337800	Weak transcription	Fetal Kidney	kidney
44	chr8:131327400-131332000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr8:131327600-131332000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:131327800-131330000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:131327800-131330200	Enhancers	Primary B cells from cord blood	blood
48	chr8:131328000-131330800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:131328200-131330800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:131328200-131332800	Enhancers	Spleen	Spleen

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