Variant report

Variant	rs7958175
Chromosome Location	chr12:117461938-117461939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117461681..117464080-chr12:117470751..117473024,2	MCF-7	breast:
2	chr12:117461340..117464538-chr12:117578917..117582364,3	MCF-7	breast:
3	chr12:117455374..117458365-chr12:117461422..117463402,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1051879	1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10850757	1.00[MEX][hapmap]
rs11068246	0.80[EUR][1000 genomes]
rs11068255	0.80[EUR][1000 genomes]
rs11833966	0.87[EUR][1000 genomes]
rs11836743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099584	0.93[EUR][1000 genomes]
rs12316811	0.80[EUR][1000 genomes]
rs12317604	0.80[EUR][1000 genomes]
rs12321592	0.80[EUR][1000 genomes]
rs12371268	1.00[MEX][hapmap]
rs16947122	1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs16947131	0.80[EUR][1000 genomes]
rs16947144	0.93[EUR][1000 genomes]
rs16947209	0.93[EUR][1000 genomes]
rs16947233	1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs16947295	0.80[EUR][1000 genomes]
rs4094199	0.93[EUR][1000 genomes]
rs41364651	0.80[EUR][1000 genomes]
rs57135901	0.93[EUR][1000 genomes]
rs58882507	0.93[EUR][1000 genomes]
rs59373313	0.80[EUR][1000 genomes]
rs59623332	1.00[EUR][1000 genomes]
rs60272946	0.93[EUR][1000 genomes]
rs61178788	0.93[EUR][1000 genomes]
rs61207925	0.93[EUR][1000 genomes]
rs61288722	0.93[EUR][1000 genomes]
rs7133142	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7133609	1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7305313	0.87[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs7314897	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs73395566	0.80[EUR][1000 genomes]
rs73395571	0.80[EUR][1000 genomes]
rs73395601	0.80[EUR][1000 genomes]
rs73397424	0.80[EUR][1000 genomes]
rs73397478	0.93[EUR][1000 genomes]
rs73397488	0.93[EUR][1000 genomes]
rs73399480	0.93[EUR][1000 genomes]
rs73399483	0.93[EUR][1000 genomes]
rs73399502	0.93[EUR][1000 genomes]
rs73403259	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73403260	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73403261	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73403264	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73403270	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7959860	0.80[EUR][1000 genomes]
rs7963012	0.80[EUR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117444000-117462800	Weak transcription	K562	blood
5	chr12:117448400-117462000	Weak transcription	Hela-S3	cervix
6	chr12:117452400-117463400	Strong transcription	Fetal Intestine Large	intestine
7	chr12:117452400-117463800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:117452600-117463600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:117452800-117462400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:117452800-117463200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:117452800-117463200	Strong transcription	A549	lung
13	chr12:117452800-117465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
16	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:117453200-117463600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:117453600-117462200	Weak transcription	NHLF	lung
19	chr12:117453600-117463200	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:117453600-117470600	Weak transcription	Psoas Muscle	Psoas
21	chr12:117453800-117462000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:117454000-117463200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:117454200-117462400	Weak transcription	GM12878-XiMat	blood
24	chr12:117454200-117462400	Weak transcription	NHDF-Ad	bronchial
25	chr12:117454200-117462400	Weak transcription	NHEK	skin
26	chr12:117454200-117462800	Weak transcription	NH-A	brain
27	chr12:117454200-117463000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:117454800-117462000	Weak transcription	Fetal Kidney	kidney
29	chr12:117454800-117466600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:117454800-117468600	Strong transcription	Primary B cells from cord blood	blood
31	chr12:117455000-117462000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:117455600-117463200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:117455600-117463600	Strong transcription	Fetal Stomach	stomach
34	chr12:117456000-117462000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:117456200-117466800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:117456400-117463400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:117456600-117465400	Weak transcription	Aorta	Aorta
38	chr12:117456800-117468000	Strong transcription	Liver	Liver
39	chr12:117457200-117469200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:117457600-117463600	Strong transcription	HepG2	liver
41	chr12:117457600-117469200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:117457800-117462000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:117457800-117468200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr12:117458000-117463400	Strong transcription	Dnd41	blood
45	chr12:117458200-117463400	Strong transcription	Primary T cells from cord blood	blood
46	chr12:117458600-117463200	Strong transcription	Pancreas	Pancrea
47	chr12:117458600-117463400	Weak transcription	Fetal Brain Male	brain
48	chr12:117458600-117469200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:117458800-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:117459000-117463200	Weak transcription	Fetal Heart	heart

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