Variant report

Variant	rs4912286
Chromosome Location	chr1:56927097-56927098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10888971	0.86[ASN][1000 genomes]
rs10888972	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11206815	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12063481	1.00[JPT][hapmap]
rs12075340	1.00[JPT][hapmap]
rs12563470	1.00[JPT][hapmap]
rs1261410	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1261412	1.00[CHB][hapmap]
rs1319274	1.00[CHB][hapmap]
rs17407790	1.00[CHB][hapmap]
rs1777276	1.00[CHB][hapmap]
rs1815487	0.91[ASN][1000 genomes]
rs1964940	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2780292	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2780857	0.95[ASN][1000 genomes]
rs6421497	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6588633	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6588634	0.91[ASN][1000 genomes]
rs6588635	0.91[ASN][1000 genomes]
rs6670090	0.86[ASN][1000 genomes]
rs6698602	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7365290	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7365293	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7368386	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7513178	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7513411	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7525346	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7527084	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7535319	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56915200-56935800	Weak transcription	NHLF	lung
4	chr1:56919200-56927200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:56919200-56930000	Weak transcription	NHDF-Ad	bronchial
6	chr1:56919800-56934200	Weak transcription	Fetal Stomach	stomach
7	chr1:56922800-56929000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:56922800-56934200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:56923600-56930000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:56924000-56927200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:56924000-56934200	Weak transcription	Right Atrium	heart
12	chr1:56924200-56931800	Weak transcription	Left Ventricle	heart
13	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
14	chr1:56926200-56927200	Enhancers	HepG2	liver
15	chr1:56926600-56927800	Enhancers	Liver	Liver
16	chr1:56926600-56927800	Enhancers	Fetal Intestine Small	intestine
17	chr1:56926600-56928200	Enhancers	Fetal Intestine Large	intestine
18	chr1:56926600-56928200	Enhancers	Fetal Thymus	thymus
19	chr1:56926800-56927400	Enhancers	Fetal Lung	lung
20	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
21	chr1:56927000-56927200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:56927000-56927200	Enhancers	Lung	lung
23	chr1:56927000-56927400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:56927000-56927400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:56927000-56927400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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