Variant report

Variant	rs11175208
Chromosome Location	chr12:64316437-64316438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64311913..64317096-chr12:64612694..64617132,6	MCF-7	breast:
2	chr12:64314904..64316610-chr12:64320054..64321573,2	MCF-7	breast:
3	chr12:64314910..64316647-chr12:64343896..64345595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10437967	0.90[ASN][1000 genomes]
rs10784373	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784374	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10878094	0.94[ASN][1000 genomes]
rs12230334	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3911399	0.99[ASN][1000 genomes]
rs3911400	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763132	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7965316	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7973936	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9668434	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:64310200-64319600	Weak transcription	Right Ventricle	heart
3	chr12:64312200-64324200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:64312400-64331600	Weak transcription	Right Atrium	heart
5	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
6	chr12:64312600-64316800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:64312600-64317000	Enhancers	NHDF-Ad	bronchial
8	chr12:64312800-64318800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:64312800-64324200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:64312800-64324600	Weak transcription	Fetal Lung	lung
11	chr12:64312800-64331200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:64312800-64331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:64313000-64318000	Weak transcription	Fetal Brain Female	brain
14	chr12:64313000-64334400	Weak transcription	Psoas Muscle	Psoas
15	chr12:64313200-64316600	Weak transcription	Lung	lung
16	chr12:64313200-64321000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:64313200-64330600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:64313200-64331600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:64313200-64331600	Weak transcription	Left Ventricle	heart
20	chr12:64313200-64334400	Weak transcription	Pancreas	Pancrea
21	chr12:64313400-64318400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:64313400-64318800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:64313800-64319200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:64313800-64321000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:64314200-64321000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:64314200-64331200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:64315000-64317000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:64315000-64317000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:64315200-64316600	Enhancers	Placenta	Placenta
30	chr12:64315400-64317000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:64315600-64317800	Weak transcription	Fetal Brain Male	brain
32	chr12:64315800-64317000	Enhancers	HMEC	breast
33	chr12:64316000-64316600	Enhancers	Fetal Heart	heart
34	chr12:64316000-64316800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:64316000-64317000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:64316200-64316800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:64316200-64316800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:64316200-64316800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:64316200-64316800	Enhancers	Hela-S3	cervix
40	chr12:64316200-64316800	Flanking Active TSS	NHEK	skin
41	chr12:64316200-64316800	Enhancers	NHLF	lung
42	chr12:64316200-64316800	Enhancers	Osteobl	bone
43	chr12:64316200-64317000	Flanking Active TSS	A549	lung
44	chr12:64316200-64317200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:64316200-64317400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:64316400-64316600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:64316400-64316600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:64316400-64316600	Enhancers	Colon Smooth Muscle	Colon
49	chr12:64316400-64316600	Enhancers	HepG2	liver
50	chr12:64316400-64316800	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links