Variant report

Variant	rs12815216
Chromosome Location	chr12:106473420-106473421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106468439..106470767-chr12:106471585..106474182,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11112856	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs11112857	0.85[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306141	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826780	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36103235	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133815	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106452800-106474000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:106458600-106476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:106458800-106500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:106461800-106499600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:106462400-106482600	Weak transcription	Esophagus	oesophagus
6	chr12:106462600-106477400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:106462800-106477400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:106463800-106477600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:106464600-106477400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:106465200-106487000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:106466200-106477600	Genic enhancers	HSMM	muscle
12	chr12:106467000-106477600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:106468400-106476000	Enhancers	Brain Substantia Nigra	brain
14	chr12:106468800-106474000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:106468800-106474200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:106469000-106476200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:106469000-106476200	Weak transcription	NHEK	skin
18	chr12:106469000-106476400	Genic enhancers	HSMMtube	muscle
19	chr12:106469000-106477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:106469000-106490200	Weak transcription	Gastric	stomach
21	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:106469200-106474600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:106469200-106474600	Weak transcription	Small Intestine	intestine
24	chr12:106469200-106476200	Weak transcription	Fetal Brain Male	brain
25	chr12:106469200-106477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:106470200-106473800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:106470200-106475600	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:106471000-106474600	Weak transcription	HepG2	liver
29	chr12:106471000-106477400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:106471200-106477400	Enhancers	Aorta	Aorta
31	chr12:106471400-106473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:106471400-106476000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:106471400-106477600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:106471400-106478400	Enhancers	Right Atrium	heart
35	chr12:106471600-106474000	Enhancers	NHDF-Ad	bronchial
36	chr12:106471600-106474800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:106471800-106473600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:106471800-106473800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:106471800-106474000	Enhancers	Fetal Kidney	kidney
40	chr12:106471800-106474600	Enhancers	Brain Hippocampus Middle	brain
41	chr12:106471800-106475600	Enhancers	Brain Angular Gyrus	brain
42	chr12:106471800-106476200	Enhancers	Ovary	ovary
43	chr12:106471800-106476800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:106472000-106473800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:106472000-106476000	Enhancers	Right Ventricle	heart
46	chr12:106472000-106477400	Genic enhancers	NH-A	brain
47	chr12:106472000-106477600	Enhancers	NHLF	lung
48	chr12:106472000-106478400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:106472200-106474400	Enhancers	Fetal Heart	heart
50	chr12:106472200-106474600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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