Variant report

Variant	rs13245564
Chromosome Location	chr7:136989304-136989305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10247519	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10251438	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs12666148	0.83[CHB][hapmap]
rs12668246	0.84[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs12671280	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17169033	1.00[JPT][hapmap]
rs2242045	0.84[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs2882589	0.89[CHB][hapmap]
rs6977749	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6977819	1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv889238	chr7:136915059-136989606	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv889239	chr7:136923730-136994013	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv889241	chr7:136976713-137038092	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv524262	chr7:136988572-136990721	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136968600-136989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136972200-136990400	Weak transcription	Fetal Stomach	stomach
3	chr7:136975200-136991000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:136976600-136991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:136979200-136989800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:136979400-136990800	Enhancers	Brain Anterior Caudate	brain
7	chr7:136981600-136990200	Weak transcription	Fetal Lung	lung
8	chr7:136981600-136990800	Enhancers	Brain Hippocampus Middle	brain
9	chr7:136982800-137008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:136983800-136989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:136983800-136990600	Weak transcription	Fetal Heart	heart
12	chr7:136984000-136990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:136984200-136990800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:136984400-136990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:136985400-136990600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:136986800-136989400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:136986800-136989400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:136987000-136991800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:136987800-136989600	Weak transcription	Fetal Kidney	kidney
20	chr7:136987800-136991600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:136988400-136990800	Enhancers	Fetal Brain Female	brain
22	chr7:136988600-136990800	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:136989000-136989400	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr7:136989000-136989800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:136989000-136990200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:136989200-136989400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:136989200-136989600	Enhancers	Brain Substantia Nigra	brain
28	chr7:136989200-136989600	Weak transcription	Fetal Brain Male	brain

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