Variant report

Variant	rs12563426
Chromosome Location	chr1:86442206-86442207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12410754	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs313724	1.00[JPT][hapmap]
rs313725	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv462395	chr1:86379514-86457334	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv546726	chr1:86379514-86457334	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv462406	chr1:86412177-86509996	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv546757	chr1:86412177-86509996	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546758	chr1:86438327-86483632	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3340591	chr1:86439980-86459810	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86422800-86442400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:86441000-86442600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:86441200-86442400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:86441200-86442800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:86441200-86442800	Enhancers	Adipose Nuclei	Adipose
6	chr1:86441400-86442400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:86441400-86442400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:86441400-86442600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:86441400-86442600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:86441400-86442800	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:86441600-86442600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:86441600-86442800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:86441800-86442800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:86441800-86442800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:86441800-86442800	Enhancers	Fetal Muscle Leg	muscle
16	chr1:86442000-86442400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:86442000-86442600	Enhancers	Fetal Intestine Large	intestine
18	chr1:86442000-86442800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:86442000-86447400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:86442200-86442400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:86442200-86442400	Enhancers	Fetal Intestine Small	intestine
22	chr1:86442200-86442600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:86442200-86442600	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:86442200-86442800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:86442200-86442800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:86442200-86443200	Weak transcription	Fetal Lung	lung

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