Variant report

Variant	rs2074193
Chromosome Location	chr12:47771429-47771430
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47667295..47669429-chr12:47769964..47771855,2	MCF-7	breast:
2	chr12:47766787..47769270-chr12:47771320..47773124,2	K562	blood:
3	chr12:47475106..47477797-chr12:47770687..47773338,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM113B-8	chr12:47770307-47773362	predAs_engstrom06_BG718375_1

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11183885	0.86[CHB][hapmap]
rs11183893	0.88[CHB][hapmap]
rs11183895	0.86[CHB][hapmap]
rs11183896	0.82[CHB][hapmap]
rs12809955	0.88[CHB][hapmap]
rs1421356	0.88[CHB][hapmap]
rs1833456	0.86[CHB][hapmap]
rs215339	0.84[ASN][1000 genomes]
rs215340	0.89[CEU][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs215341	0.84[ASN][1000 genomes]
rs215344	0.81[ASN][1000 genomes]
rs215345	0.87[ASN][1000 genomes]
rs215347	0.80[CEU][hapmap]
rs4768805	0.86[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Migraine with aura	23793025	GWAS catalog

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47762800-47771800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:47763200-47772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:47763200-47772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:47766600-47772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:47770400-47773200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:47770600-47772400	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:47770600-47773200	Enhancers	Adipose Nuclei	Adipose
8	chr12:47770600-47773400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:47770800-47771800	Enhancers	Lung	lung
10	chr12:47770800-47771800	Enhancers	NHDF-Ad	bronchial
11	chr12:47770800-47772200	Enhancers	Brain Hippocampus Middle	brain
12	chr12:47770800-47772200	Enhancers	Right Atrium	heart
13	chr12:47770800-47772400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:47770800-47772400	Enhancers	Ovary	ovary
15	chr12:47770800-47773400	Enhancers	Liver	Liver
16	chr12:47770800-47773600	Enhancers	HUVEC	blood vessel
17	chr12:47771000-47771600	Enhancers	Fetal Brain Male	brain
18	chr12:47771000-47772000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:47771000-47772200	Enhancers	HMEC	breast
20	chr12:47771000-47772400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:47771000-47772400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:47771000-47772800	Enhancers	NH-A	brain
23	chr12:47771200-47771600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:47771200-47771600	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr12:47771200-47771600	Enhancers	Colon Smooth Muscle	Colon
26	chr12:47771200-47771600	Flanking Active TSS	Fetal Lung	lung
27	chr12:47771200-47771600	Enhancers	HSMMtube	muscle
28	chr12:47771200-47771800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:47771200-47771800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:47771200-47771800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:47771200-47771800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr12:47771200-47771800	Active TSS	Stomach Smooth Muscle	stomach
33	chr12:47771200-47771800	Flanking Active TSS	NHEK	skin
34	chr12:47771200-47772000	Enhancers	Fetal Heart	heart
35	chr12:47771200-47772200	Flanking Active TSS	A549	lung
36	chr12:47771200-47772400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:47771200-47772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:47771200-47773000	Enhancers	HSMM	muscle
39	chr12:47771200-47773200	Enhancers	Hela-S3	cervix
40	chr12:47771200-47773600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:47771400-47771600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:47771400-47771600	Enhancers	Brain Angular Gyrus	brain
43	chr12:47771400-47771600	Active TSS	Brain Anterior Caudate	brain
44	chr12:47771400-47771600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:47771400-47771600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:47771400-47771600	Enhancers	Osteobl	bone
47	chr12:47771400-47771800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:47771400-47771800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:47771400-47771800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:47771400-47771800	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links