Variant report

Variant	rs56143757
Chromosome Location	chr2:188894876-188894877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10178187	0.83[EUR][1000 genomes]
rs10179589	0.85[AMR][1000 genomes]
rs1400073	0.85[AMR][1000 genomes]
rs1898909	0.85[AMR][1000 genomes]
rs1992281	0.83[EUR][1000 genomes]
rs2016373	0.85[AMR][1000 genomes]
rs2165153	0.81[AMR][1000 genomes]
rs2350194	0.85[AMR][1000 genomes]
rs4667199	0.85[AMR][1000 genomes]
rs4667202	0.83[EUR][1000 genomes]
rs7419931	0.85[AMR][1000 genomes]
rs7571862	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875601	chr2:188871436-188934777	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188884800-188897200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:188885200-188897000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:188892400-188896400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:188892600-188911400	Weak transcription	Aorta	Aorta
5	chr2:188893600-188897000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:188893800-188896200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:188893800-188896200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:188893800-188897600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:188893800-188898200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:188893800-188898600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:188894000-188895400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:188894000-188896800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:188894000-188897200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:188894400-188897200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:188894600-188895400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:188894600-188896200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:188894600-188896400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:188894600-188896800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:188894800-188896600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:188894800-188896600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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