Variant report

Variant	rs2141014
Chromosome Location	chr7:125146474-125146475
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:7)

rs_ID	r²[population]
rs10247957	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10954076	0.85[ASN][1000 genomes]
rs12706655	0.94[ASN][1000 genomes]
rs1526397	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140794	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776935	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786294	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1028369	chr7:124967804-125508233	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948720	chr7:124970772-125783434	Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv889145	chr7:124977736-125231999	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1018428	chr7:125044642-125730775	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv831120	chr7:125044774-125207696	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1028636	chr7:125073718-125406148	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv539112	chr7:125073718-125406148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv889147	chr7:125088151-125176699	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1034113	chr7:125099740-125412688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv889148	chr7:125131542-125231999	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125143200-125147200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:125144200-125146800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:125144600-125146600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:125144600-125146600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:125144600-125147000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:125144600-125147200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:125144800-125146600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:125145000-125146600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:125145000-125146600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:125145000-125146800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:125145400-125146600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:125145600-125146800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:125145800-125146600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:125145800-125146800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:125146200-125146600	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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