Variant report

Variant	rs17113967
Chromosome Location	chr1:56911299-56911300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12568903	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17113979	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17113991	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17113995	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17113998	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17114004	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17114017	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17114029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17415442	0.82[ASN][1000 genomes]
rs2151392	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2151393	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2184106	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4912285	1.00[AFR][1000 genomes];0.96[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56900600-56912000	Weak transcription	Esophagus	oesophagus
2	chr1:56902000-56912200	Weak transcription	Lung	lung
3	chr1:56902200-56911800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:56903200-56912000	Weak transcription	Fetal Lung	lung
5	chr1:56904200-56912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56905400-56942600	Weak transcription	Gastric	stomach
7	chr1:56905600-56912000	Weak transcription	Left Ventricle	heart
8	chr1:56905600-56914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:56905800-56912200	Weak transcription	Spleen	Spleen
10	chr1:56906000-56911800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:56906000-56912000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:56906000-56913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:56906000-56914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:56907600-56912200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:56908400-56912000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:56908400-56912000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:56908400-56912200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:56909000-56911800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:56909200-56915800	Enhancers	HepG2	liver
21	chr1:56910000-56916200	Enhancers	Liver	Liver
22	chr1:56910400-56912800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:56910600-56911400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:56910800-56911400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:56911000-56911400	Enhancers	Primary B cells from cord blood	blood
26	chr1:56911200-56911400	Enhancers	Psoas Muscle	Psoas
27	chr1:56911200-56912000	Weak transcription	Right Atrium	heart
28	chr1:56911200-56913200	Enhancers	Primary neutrophils fromperipheralblood	blood

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