Variant report

Variant	rs2647911
Chromosome Location	chr12:64581987-64581988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64579699..64582531-chr12:64614447..64617129,4	MCF-7	breast:
2	chr12:64578028..64582005-chr12:64614594..64617050,4	MCF-7	breast:
3	chr12:64575285..64577484-chr12:64581484..64584031,3	MCF-7	breast:
4	chr12:64580918..64582549-chr12:64601522..64604143,2	K562	blood:

Variant related genes	Relation type
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2279740	0.84[CHD][hapmap]

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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2647911	RBMS1	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64567800-64585600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:64574600-64587600	Weak transcription	Left Ventricle	heart
3	chr12:64574600-64597000	Weak transcription	Esophagus	oesophagus
4	chr12:64574800-64586400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
6	chr12:64575200-64597000	Weak transcription	Aorta	Aorta
7	chr12:64575400-64586000	Weak transcription	Ovary	ovary
8	chr12:64575400-64587600	Weak transcription	Spleen	Spleen
9	chr12:64575400-64590400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:64575600-64586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:64575600-64586800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:64575600-64587400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:64575600-64587600	Weak transcription	Brain Angular Gyrus	brain
14	chr12:64575600-64607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
17	chr12:64576000-64587400	Weak transcription	Brain Anterior Caudate	brain
18	chr12:64576000-64587600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:64576000-64587800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:64576000-64597200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:64576200-64586600	Weak transcription	Brain Substantia Nigra	brain
23	chr12:64576200-64586800	Weak transcription	Liver	Liver
24	chr12:64576200-64587400	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:64576200-64587800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:64576200-64589600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:64576400-64587400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:64576600-64587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:64579000-64586200	Weak transcription	Primary B cells from cord blood	blood
30	chr12:64580400-64582000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:64580400-64582000	Enhancers	HMEC	breast
32	chr12:64580400-64582400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:64580400-64582400	Enhancers	NHLF	lung
34	chr12:64580400-64582600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:64580400-64582600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:64580400-64582600	Enhancers	HUVEC	blood vessel
37	chr12:64580400-64582600	Enhancers	NHDF-Ad	bronchial
38	chr12:64580600-64582400	Enhancers	Osteobl	bone
39	chr12:64580600-64583400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:64580600-64583800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:64580800-64582000	Enhancers	Adipose Nuclei	Adipose
42	chr12:64581000-64586200	Weak transcription	GM12878-XiMat	blood
43	chr12:64581200-64582600	Enhancers	A549	lung
44	chr12:64581200-64582600	Enhancers	Hela-S3	cervix
45	chr12:64581200-64582600	Enhancers	NH-A	brain
46	chr12:64581200-64587400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:64581200-64587600	Weak transcription	HSMM	muscle
48	chr12:64581200-64587800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:64581200-64597000	Weak transcription	HSMMtube	muscle
50	chr12:64581400-64582400	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links