Variant report

Variant	rs12470966
Chromosome Location	chr2:173073136-173073137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173072751..173074483-chr2:173077609..173079587,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10930531	0.86[ASN][1000 genomes]
rs12617862	0.82[ASN][1000 genomes]
rs4972716	0.86[ASN][1000 genomes]
rs6717806	0.86[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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv3033	chr2:173063284-173108586	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173065400-173073600	Weak transcription	NHEK	skin
2	chr2:173069400-173073200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:173070000-173073200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173070000-173077800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:173070200-173078600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:173070600-173076800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:173070600-173077600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:173070800-173073200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:173071800-173073400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:173071800-173074600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:173072000-173073200	Weak transcription	Osteobl	bone
12	chr2:173072000-173073400	Enhancers	NHLF	lung
13	chr2:173072000-173074800	Enhancers	Fetal Intestine Small	intestine
14	chr2:173072400-173074400	Enhancers	Fetal Muscle Leg	muscle
15	chr2:173072400-173074800	Enhancers	Fetal Intestine Large	intestine
16	chr2:173072400-173075800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:173072600-173074400	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:173072600-173074600	Enhancers	Ovary	ovary
19	chr2:173072600-173084200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:173072800-173073400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:173072800-173073400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:173072800-173073600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:173072800-173074800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:173072800-173075600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:173073000-173073400	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:173073000-173073800	Enhancers	HUVEC	blood vessel
27	chr2:173073000-173074800	Enhancers	HMEC	breast

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