Variant report

Variant	rs12056001
Chromosome Location	chr7:19983515-19983516
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10645505	0.84[ASN][1000 genomes]
rs12056097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17142273	0.87[ASN][1000 genomes]
rs58131061	1.00[AMR][1000 genomes]
rs59231787	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60435715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61702473	1.00[AMR][1000 genomes]
rs73684915	1.00[AMR][1000 genomes]
rs7804103	0.94[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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv887826	chr7:19816240-20033899	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1027445	chr7:19947297-20211733	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv887830	chr7:19970584-20114589	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19956400-19988000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:19960800-19993200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:19965000-19985600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:19975200-19993200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:19980000-19984000	Weak transcription	HMEC	breast
6	chr7:19980000-19984200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:19980000-19984200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:19980000-19993600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:19980600-19984200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:19982000-19993400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:19982200-19984600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:19983000-19983600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:19983200-19994000	Weak transcription	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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