Variant report

Variant	rs7294427
Chromosome Location	chr12:122692874-122692875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
2	chr12:122620610..122622976-chr12:122690151..122692942,2	K562	blood:
3	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1001178	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12310939	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426902	0.89[ASN][1000 genomes]
rs28439749	0.91[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28536732	0.91[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28579554	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55639239	1.00[EUR][1000 genomes]
rs56229172	1.00[EUR][1000 genomes]
rs56276573	1.00[EUR][1000 genomes]
rs58044975	1.00[EUR][1000 genomes]
rs58583917	1.00[EUR][1000 genomes]
rs58865449	1.00[EUR][1000 genomes]
rs58928984	1.00[EUR][1000 genomes]
rs59638725	1.00[EUR][1000 genomes]
rs60425908	1.00[EUR][1000 genomes]
rs60595657	1.00[EUR][1000 genomes]
rs61140498	0.86[EUR][1000 genomes]
rs7135931	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7136074	1.00[EUR][1000 genomes]
rs7294849	1.00[EUR][1000 genomes]
rs7304287	1.00[EUR][1000 genomes]
rs7305870	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73404008	1.00[EUR][1000 genomes]
rs73404018	1.00[EUR][1000 genomes]
rs73404020	1.00[EUR][1000 genomes]
rs73404029	1.00[EUR][1000 genomes]
rs73404037	1.00[EUR][1000 genomes]
rs73404045	1.00[EUR][1000 genomes]
rs73404046	1.00[EUR][1000 genomes]
rs73404065	1.00[EUR][1000 genomes]
rs73405849	1.00[EUR][1000 genomes]
rs73405864	1.00[EUR][1000 genomes]
rs73421714	1.00[EUR][1000 genomes]
rs73421719	1.00[EUR][1000 genomes]
rs73421737	1.00[EUR][1000 genomes]
rs73421739	1.00[EUR][1000 genomes]
rs73421744	1.00[EUR][1000 genomes]
rs73421747	1.00[EUR][1000 genomes]
rs73421765	1.00[EUR][1000 genomes]
rs7952820	0.90[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7957335	0.91[GIH][hapmap]
rs872494	0.96[ASN][1000 genomes]
rs9971771	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122688200-122696600	Weak transcription	Hela-S3	cervix
2	chr12:122688800-122694200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:122688800-122694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
5	chr12:122689200-122694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:122689200-122696800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:122689400-122693000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:122690200-122695600	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:122690200-122696000	Weak transcription	NHDF-Ad	bronchial
10	chr12:122690400-122695600	Weak transcription	Fetal Brain Male	brain
11	chr12:122690600-122700400	Weak transcription	Fetal Heart	heart
12	chr12:122690600-122708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:122690800-122693200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:122690800-122696400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:122690800-122700400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:122690800-122706000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:122690800-122708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:122690800-122708800	Strong transcription	Fetal Brain Female	brain
19	chr12:122690800-122709400	Weak transcription	Stomach Mucosa	stomach
20	chr12:122691000-122693200	Strong transcription	K562	blood
21	chr12:122691000-122693600	Strong transcription	Colonic Mucosa	Colon
22	chr12:122691000-122693800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:122691000-122700800	Strong transcription	Fetal Intestine Small	intestine
24	chr12:122691000-122703200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:122691000-122705800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:122691000-122707600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122691000-122707800	Strong transcription	Thymus	Thymus
28	chr12:122691000-122708200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:122691000-122708800	Strong transcription	A549	lung
31	chr12:122691200-122693200	Strong transcription	Right Ventricle	heart
32	chr12:122691200-122694400	Strong transcription	Lung	lung
33	chr12:122691200-122694800	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr12:122691200-122694800	Strong transcription	NHLF	lung
35	chr12:122691200-122700800	Strong transcription	Spleen	Spleen
36	chr12:122691200-122706600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr12:122691200-122708000	Strong transcription	Brain Germinal Matrix	brain
38	chr12:122691200-122708000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:122691200-122708400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:122691400-122693200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr12:122691400-122693200	Strong transcription	Esophagus	oesophagus
46	chr12:122691400-122693400	Strong transcription	Small Intestine	intestine
47	chr12:122691400-122693600	Strong transcription	Primary T cells from cord blood	blood
48	chr12:122691400-122693600	Strong transcription	NHEK	skin
49	chr12:122691400-122694200	Strong transcription	Pancreas	Pancrea
50	chr12:122691400-122694800	Strong transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links