Variant report

Variant	rs2210617
Chromosome Location	chr1:56911863-56911864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11206810	0.98[ASN][1000 genomes]
rs11206823	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11206825	0.84[EUR][1000 genomes]
rs2896948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4244013	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4912291	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7525717	0.83[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:29 , 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	chr1:56903200-56912000	Weak transcription	Fetal Lung	lung
4	chr1:56904200-56912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:56905400-56942600	Weak transcription	Gastric	stomach
6	chr1:56905600-56912000	Weak transcription	Left Ventricle	heart
7	chr1:56905600-56914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:56905800-56912200	Weak transcription	Spleen	Spleen
9	chr1:56906000-56912000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:56906000-56913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:56906000-56914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:56907600-56912200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:56908400-56912000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:56908400-56912000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:56908400-56912200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
17	chr1:56909200-56915800	Enhancers	HepG2	liver
18	chr1:56910000-56916200	Enhancers	Liver	Liver
19	chr1:56910400-56912800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:56911200-56912000	Weak transcription	Right Atrium	heart
21	chr1:56911200-56913200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:56911400-56913000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:56911800-56912200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:56911800-56912200	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:56911800-56913000	Enhancers	Fetal Muscle Leg	muscle
26	chr1:56911800-56913400	Enhancers	Fetal Stomach	stomach
27	chr1:56911800-56913400	Enhancers	Psoas Muscle	Psoas
28	chr1:56911800-56913600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:56911800-56914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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