Variant report

Variant	rs10950381
Chromosome Location	chr7:12131472-12131473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11977478	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533230	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533558	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356051	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2356052	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4719291	0.80[AMR][1000 genomes];0.95[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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830906	chr7:12001764-12177869	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv887626	chr7:12119520-12151476	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1031893	chr7:12127098-12155796	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12127200-12142600	Weak transcription	Fetal Lung	lung
2	chr7:12130200-12131600	Enhancers	Fetal Intestine Large	intestine
3	chr7:12130400-12131600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:12130400-12132200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:12130600-12131600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:12130600-12132000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:12130800-12131800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:12130800-12131800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:12131000-12131600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:12131000-12131600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:12131000-12131600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:12131000-12131600	Enhancers	Placenta	Placenta
13	chr7:12131000-12131600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr7:12131000-12131800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:12131200-12131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:12131200-12131600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:12131200-12131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:12131200-12132400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:12131400-12132600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:12131400-12133600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:12131400-12133600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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