Variant report

Variant	rs12539919
Chromosome Location	chr7:83805061-83805062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11979170	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9642175	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs996033	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv888630	chr7:83782839-83809111	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:83800800-83816600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83801600-83805800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:83802000-83807400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:83803000-83805200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr7:83803400-83806000	Weak transcription	Fetal Stomach	stomach
7	chr7:83803400-83806200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:83803400-83816200	Weak transcription	Fetal Brain Male	brain
9	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:83803600-83805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:83803600-83806000	Weak transcription	NHDF-Ad	bronchial
12	chr7:83803600-83813400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:83803600-83816200	Weak transcription	NHLF	lung
14	chr7:83803600-83816400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:83803600-83816400	Weak transcription	NH-A	brain
16	chr7:83803800-83805600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:83803800-83805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:83803800-83805800	Weak transcription	A549	lung
19	chr7:83803800-83808400	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:83803800-83811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:83804600-83805200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:83804600-83807600	Enhancers	Colon Smooth Muscle	Colon
24	chr7:83804600-83813600	Weak transcription	Fetal Lung	lung
25	chr7:83804600-83816200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:83804800-83807600	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:83805000-83807200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:83805000-83816200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:83805000-83817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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