Variant report

Variant	rs7961604
Chromosome Location	chr12:22124233-22124234
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]
rs10734715	1.00[AMR][1000 genomes]
rs1400620	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517273	1.00[AMR][1000 genomes]
rs1517278	1.00[AMR][1000 genomes]
rs4762866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6487252	1.00[AMR][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	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv639	chr12:22110979-22153478	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3342564	chr12:22123778-22128844	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3419963	chr12:22123788-22128847	Enhancers Weak transcription Flanking Active TSS	n/a	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	chr12:22124000-22124800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:22124000-22124800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:22124000-22125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:22124000-22125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:22124000-22125400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:22124200-22124400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr12:22124200-22124600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:22124200-22124600	Enhancers	Fetal Kidney	kidney
9	chr12:22124200-22124800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:22124200-22124800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:22124200-22124800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:22124200-22124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:22124200-22125000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:22124200-22125000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:22124200-22125200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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