Variant report

Variant	rs7970571
Chromosome Location	chr12:106330639-106330640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106326499..106332666-chr12:106530301..106534417,9	MCF-7	breast:
2	chr12:106322923..106333063-chr12:106528610..106534226,20	MCF-7	breast:
3	chr12:106254601..106257221-chr12:106327502..106331363,4	MCF-7	breast:
4	chr12:106315341..106317529-chr12:106329436..106331442,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7304960	0.80[JPT][hapmap]
rs7315146	0.92[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs7955669	0.81[JPT][hapmap]

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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106324600-106332000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:106324800-106332200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:106324800-106332400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:106325200-106332400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:106325400-106336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:106325600-106335200	Enhancers	HMEC	breast
7	chr12:106327200-106331000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:106327200-106335000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:106327600-106331000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:106327600-106331000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:106327600-106331000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:106327800-106330800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:106328200-106339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:106328400-106331000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:106328600-106335000	Enhancers	NHEK	skin
16	chr12:106328800-106331000	Enhancers	HSMM	muscle
17	chr12:106329400-106331200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:106329600-106330800	Enhancers	Right Ventricle	heart
19	chr12:106329600-106331000	Enhancers	Psoas Muscle	Psoas
20	chr12:106329800-106331200	Enhancers	Left Ventricle	heart
21	chr12:106330000-106330800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:106330400-106330800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:106330400-106331000	Enhancers	Right Atrium	heart
24	chr12:106330600-106330800	Enhancers	Fetal Muscle Trunk	muscle
25	chr12:106330600-106331000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:106330600-106331000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:106330600-106331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:106330600-106332200	Enhancers	HSMMtube	muscle
29	chr12:106330600-106334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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