Variant report

Variant	rs10772497
Chromosome Location	chr12:11801125-11801126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:11800858-11801340	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:11800882-11801331	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:11800903-11801319	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:11800884-11801370	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:11800959-11801302	GM12892	blood:	n/a	n/a
6	MXI1	chr12:11801047-11806809	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:11800934-11801392	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:11800508..11802179-chr12:11860722..11862273,2	MCF-7	breast:
2	chr12:11800455..11804262-chr12:12036773..12041762,7	MCF-7	breast:
3	chr12:11786072..11788465-chr12:11800287..11802406,2	K562	blood:
4	chr12:11784813..11787611-chr12:11800177..11801948,2	MCF-7	breast:
5	chr12:11800032..11801851-chr12:11845652..11848182,2	MCF-7	breast:
6	chr12:11800154..11802196-chr12:11905804..11907326,2	MCF-7	breast:
7	chr12:11799547..11802655-chr12:12030358..12032726,3	MCF-7	breast:
8	chr12:11800191..11804184-chr12:12034563..12039946,8	MCF-7	breast:

No data

Variant related genes	Relation type
ETV6	TF binding region
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4763713	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763714	0.82[AFR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10772497	CLEC12B	cis	parietal	SCAN
rs10772497	GPRC5A	cis	parietal	SCAN
rs10772497	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11797200-11801200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:11797400-11801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:11797400-11801400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:11798800-11801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:11800800-11801200	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:11800800-11801400	Enhancers	Fetal Brain Male	brain
7	chr12:11801000-11801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:11801000-11801200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:11801000-11801200	Enhancers	GM12878-XiMat	blood
10	chr12:11801000-11801200	Enhancers	Hela-S3	cervix
11	chr12:11801000-11801200	Enhancers	HMEC	breast
12	chr12:11801000-11801400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:11801000-11801400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr12:11801000-11801400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:11801000-11801400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:11801000-11801400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:11801000-11801400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:11801000-11801400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:11801000-11801400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:11801000-11801400	Enhancers	Adipose Nuclei	Adipose
21	chr12:11801000-11801400	Enhancers	Brain Substantia Nigra	brain
22	chr12:11801000-11801400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:11801000-11801400	Enhancers	Fetal Intestine Small	intestine
24	chr12:11801000-11801400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr12:11801000-11801400	Enhancers	Fetal Muscle Leg	muscle
26	chr12:11801000-11801400	Enhancers	Fetal Thymus	thymus
27	chr12:11801000-11801400	Enhancers	Pancreas	Pancrea
28	chr12:11801000-11801400	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:11801000-11801400	Enhancers	Small Intestine	intestine
30	chr12:11801000-11801400	Enhancers	HUVEC	blood vessel
31	chr12:11801000-11801400	Enhancers	NHDF-Ad	bronchial
32	chr12:11801000-11801400	Enhancers	NHEK	skin
33	chr12:11801000-11801600	Flanking Active TSS	K562	blood
34	chr12:11801000-11801800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr12:11801000-11802000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:11801000-11804000	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr12:11801000-11804600	Active TSS	Fetal Kidney	kidney
38	chr12:11801000-11804800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:11801000-11805200	Active TSS	Stomach Smooth Muscle	stomach

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