Variant report

Variant	rs7982949
Chromosome Location	chr13:94149348-94149349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12586008	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2389005	0.95[ASN][1000 genomes]
rs34284652	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3904290	0.95[CEU][hapmap]
rs4301899	0.90[AMR][1000 genomes]
rs4553469	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61964218	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61964219	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7996583	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9516237	0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9524077	0.82[ASN][1000 genomes]
rs9524081	0.80[JPT][hapmap]
rs9561354	0.80[JPT][hapmap]
rs9561358	0.82[JPT][hapmap]
rs9561360	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv530636	chr13:93997311-94281707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916039	chr13:94035909-94191105	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv562749	chr13:94083352-94263206	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv900920	chr13:94088707-94151937	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv1842896	chr13:94095160-94153194	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv900921	chr13:94105666-94157481	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv900922	chr13:94105666-94281492	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94148600-94149400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr13:94148600-94149400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:94148600-94150000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:94148800-94149400	Enhancers	Fetal Intestine Large	intestine
5	chr13:94148800-94149400	Enhancers	Fetal Intestine Small	intestine
6	chr13:94148800-94149600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr13:94148800-94149600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:94148800-94149600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:94149000-94149400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:94149000-94149600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:94149000-94149800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:94149000-94150000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:94149000-94150000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:94149200-94149400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:94149200-94149400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:94149200-94149600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr13:94149200-94149600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:94149200-94149600	Flanking Active TSS	Fetal Lung	lung
19	chr13:94149200-94149600	Enhancers	Fetal Stomach	stomach
20	chr13:94149200-94149800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:94149200-94149800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:94149200-94150200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:94149200-94150200	Enhancers	Fetal Heart	heart

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