Variant report

Variant	rs10971542
Chromosome Location	chr9:33506301-33506302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:33500337..33502515-chr9:33504902..33506531,2	MCF-7	breast:
2	chr9:33506278..33509110-chr9:33511393..33513037,2	MCF-7	breast:
3	chr9:33505343..33508128-chr9:33516249..33518237,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10465079	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10813986	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10971528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10971529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10971531	0.88[ASN][1000 genomes]
rs10971532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10971533	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10971537	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10971539	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795028	0.88[LWK][hapmap]
rs12236961	1.00[AMR][1000 genomes]
rs2275228	0.83[YRI][hapmap]
rs3739682	1.00[EUR][1000 genomes]
rs3814514	1.00[EUR][1000 genomes]
rs7022355	0.95[ASN][1000 genomes]
rs7027139	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7031985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7033723	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7038544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7043800	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73482880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7847340	0.83[AFR][1000 genomes]
rs7861182	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864131	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv972306	chr9:33486353-33510883	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv427840	chr9:33495185-33989975	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33475000-33510400	Weak transcription	Fetal Lung	lung
2	chr9:33475000-33510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:33478800-33510600	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:33495600-33510200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:33498200-33510400	Weak transcription	Fetal Stomach	stomach
6	chr9:33500000-33510600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:33500800-33510800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:33502800-33510600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:33502800-33510800	Weak transcription	Left Ventricle	heart
10	chr9:33504800-33510600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:33504800-33510600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:33505000-33508800	Weak transcription	Dnd41	blood
13	chr9:33505200-33507400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:33505400-33510600	Weak transcription	Right Ventricle	heart
15	chr9:33505800-33506600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:33505800-33506800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:33505800-33506800	Enhancers	HUVEC	blood vessel
18	chr9:33505800-33507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:33506000-33506400	Enhancers	Hela-S3	cervix
20	chr9:33506000-33506400	Enhancers	Osteobl	bone
21	chr9:33506000-33506600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:33506000-33506800	Enhancers	NHDF-Ad	bronchial
23	chr9:33506000-33507000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:33506000-33507000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:33506000-33507400	Enhancers	HMEC	breast
26	chr9:33506200-33506400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:33506200-33506400	Enhancers	HSMMtube	muscle
28	chr9:33506200-33506400	Enhancers	NH-A	brain
29	chr9:33506200-33506800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:33506200-33506800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:33506200-33506800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:33506200-33506800	Enhancers	Esophagus	oesophagus
33	chr9:33506200-33506800	Enhancers	NHEK	skin
34	chr9:33506200-33507000	Enhancers	HSMM	muscle
35	chr9:33506200-33507000	Enhancers	NHLF	lung
36	chr9:33506200-33507200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:33506200-33507200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:33506200-33507200	Enhancers	HepG2	liver
39	chr9:33506200-33507400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:33506200-33507400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:33506200-33507400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:33506200-33507400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr9:33506200-33507400	Flanking Active TSS	A549	lung
44	chr9:33506200-33507400	Enhancers	K562	blood

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