Variant report

Variant	rs6947948
Chromosome Location	chr7:121785767-121785768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10230768	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246429	0.82[AMR][1000 genomes]
rs12669983	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12671513	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12674287	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2215359	0.82[AMR][1000 genomes]
rs284344	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284348	1.00[EUR][1000 genomes]
rs284367	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs284378	1.00[EUR][1000 genomes]
rs284388	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs659022	1.00[EUR][1000 genomes]
rs672483	1.00[EUR][1000 genomes]
rs73426035	0.82[AMR][1000 genomes]

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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121781600-121785800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:121784800-121788200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:121785000-121785800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:121785000-121785800	Enhancers	Pancreas	Pancrea
5	chr7:121785000-121786200	Enhancers	Liver	Liver
6	chr7:121785000-121786800	Enhancers	Fetal Intestine Large	intestine
7	chr7:121785000-121786800	Enhancers	Fetal Intestine Small	intestine
8	chr7:121785000-121787000	Weak transcription	Aorta	Aorta
9	chr7:121785000-121796800	Weak transcription	Ovary	ovary
10	chr7:121785200-121786000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:121785200-121786800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:121785200-121787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:121785200-121789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:121785400-121785800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:121785400-121785800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:121785400-121785800	Enhancers	Fetal Heart	heart
17	chr7:121785400-121786600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:121785400-121787000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:121785400-121791000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:121785400-121791800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:121785600-121785800	Enhancers	Left Ventricle	heart
22	chr7:121785600-121786600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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