Variant report

Variant	rs4423256
Chromosome Location	chr12:104447989-104447990
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	chr12:104443016..104445698-chr12:104446306..104448037,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11111878	0.83[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17035146	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1843371	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1920410	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920411	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1920412	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220210	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961041	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104444000-104449000	Weak transcription	Pancreas	Pancrea
2	chr12:104444200-104449400	Weak transcription	Liver	Liver
3	chr12:104444400-104448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:104444400-104448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:104444400-104449200	Weak transcription	Fetal Heart	heart
6	chr12:104444400-104457400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:104444600-104448400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:104444600-104448400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:104444600-104448400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:104444600-104448800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:104444600-104449000	Weak transcription	Ovary	ovary
12	chr12:104444600-104449200	Weak transcription	NHLF	lung
13	chr12:104444600-104449400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:104444600-104449600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104444600-104449600	Weak transcription	Fetal Lung	lung
16	chr12:104444600-104449600	Weak transcription	HSMM	muscle
17	chr12:104444600-104449600	Weak transcription	HSMMtube	muscle
18	chr12:104444600-104449800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:104444600-104449800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:104444600-104451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:104444600-104451600	Weak transcription	HMEC	breast
22	chr12:104444800-104448400	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:104444800-104449000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:104444800-104449400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:104444800-104452600	Weak transcription	Placenta	Placenta
26	chr12:104445000-104448600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:104445000-104448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:104447800-104448000	Enhancers	Pancreatic Islets	Pancreatic Islet

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