Variant report

Variant	rs1051879
Chromosome Location	chr12:117467125-117467126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117465400..117467600-chr12:117591439..117594342,2	MCF-7	breast:
2	chr12:117465370..117468011-chr12:117469598..117472527,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1032528	0.80[EUR][1000 genomes]
rs11068246	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068255	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11833966	0.80[EUR][1000 genomes]
rs11836743	0.93[EUR][1000 genomes]
rs12099584	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308592	0.89[AMR][1000 genomes]
rs12313248	0.89[AMR][1000 genomes]
rs12316811	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12317604	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12318749	1.00[CEU][hapmap]
rs12321592	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947046	1.00[CEU][hapmap]
rs16947122	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947131	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947144	1.00[EUR][1000 genomes]
rs16947209	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947233	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947295	0.86[EUR][1000 genomes]
rs4094199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41364651	0.86[EUR][1000 genomes]
rs4451816	0.89[AMR][1000 genomes]
rs57135901	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58882507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59373313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59623332	0.93[EUR][1000 genomes]
rs60272946	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61178788	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61207925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61288722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133142	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs7133609	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136880	0.89[AMR][1000 genomes]
rs7294581	1.00[MEX][hapmap];0.85[YRI][hapmap]
rs7302713	0.89[AMR][1000 genomes]
rs7305313	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7314897	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73395566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395571	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395601	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397424	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399502	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403259	0.80[EUR][1000 genomes]
rs73403260	0.80[EUR][1000 genomes]
rs73403261	0.80[EUR][1000 genomes]
rs73403264	0.80[EUR][1000 genomes]
rs73403270	0.80[EUR][1000 genomes]
rs7958175	1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7959860	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7963012	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
2	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
5	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:117453600-117470600	Weak transcription	Psoas Muscle	Psoas
7	chr12:117454800-117468600	Strong transcription	Primary B cells from cord blood	blood
8	chr12:117456800-117468000	Strong transcription	Liver	Liver
9	chr12:117457200-117469200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:117457600-117469200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:117457800-117468200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr12:117458600-117469200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:117458800-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:117459600-117469200	Strong transcription	Osteobl	bone
15	chr12:117460800-117468000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:117461000-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:117461200-117467200	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr12:117461200-117468200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:117461200-117469200	Strong transcription	Fetal Thymus	thymus
20	chr12:117461400-117467400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:117461400-117468200	Strong transcription	HSMMtube	muscle
22	chr12:117461400-117468600	Strong transcription	Fetal Intestine Small	intestine
23	chr12:117461400-117468600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:117461400-117469200	Strong transcription	Lung	lung
25	chr12:117461600-117467200	Strong transcription	Thymus	Thymus
26	chr12:117461600-117467400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:117461600-117468600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:117461600-117470600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:117461800-117468200	Strong transcription	Fetal Brain Female	brain
30	chr12:117461800-117468400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:117461800-117469200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:117461800-117469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:117462000-117467200	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:117462400-117467200	Strong transcription	NHEK	skin
36	chr12:117463200-117467800	Enhancers	Fetal Heart	heart
37	chr12:117463200-117470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:117463200-117471000	Weak transcription	Right Atrium	heart
39	chr12:117463400-117470200	Weak transcription	GM12878-XiMat	blood
40	chr12:117463600-117470600	Weak transcription	Fetal Kidney	kidney
41	chr12:117463800-117467200	Strong transcription	Fetal Intestine Large	intestine
42	chr12:117463800-117468000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:117463800-117468200	Strong transcription	Brain Hippocampus Middle	brain
44	chr12:117463800-117468600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:117463800-117468800	Strong transcription	Primary T cells from cord blood	blood
46	chr12:117463800-117469000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:117463800-117469000	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:117464000-117467200	Strong transcription	Fetal Lung	lung
49	chr12:117464000-117467200	Strong transcription	Placenta	Placenta
50	chr12:117464000-117467400	Strong transcription	Brain Substantia Nigra	brain

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