Variant report

Variant	rs6977749
Chromosome Location	chr7:136985504-136985505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10247519	0.92[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251438	0.85[JPT][hapmap]
rs12668246	0.85[JPT][hapmap]
rs12671280	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13245564	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17169033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2242045	0.85[JPT][hapmap]
rs6977819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:29 , 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	chr7:136981000-136985600	Weak transcription	Fetal Kidney	kidney
8	chr7:136981400-136986400	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:136981600-136986800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:136981600-136990200	Weak transcription	Fetal Lung	lung
11	chr7:136981600-136990800	Enhancers	Brain Hippocampus Middle	brain
12	chr7:136982200-136986400	Enhancers	Brain Angular Gyrus	brain
13	chr7:136982600-136989000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:136982800-137008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:136983200-136989000	Enhancers	Brain Substantia Nigra	brain
16	chr7:136983800-136987800	Weak transcription	Fetal Brain Female	brain
17	chr7:136983800-136989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:136983800-136990600	Weak transcription	Fetal Heart	heart
19	chr7:136984000-136986800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:136984000-136990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:136984200-136985600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:136984200-136990800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:136984400-136990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:136985000-136986000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:136985000-136986400	Enhancers	Liver	Liver
26	chr7:136985200-136985600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:136985200-136986200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:136985400-136986000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:136985400-136990600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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