Variant report

Variant	rs4244013
Chromosome Location	chr1:56912046-56912047
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10789023	0.81[ASN][1000 genomes]
rs11206810	0.94[ASN][1000 genomes]
rs11206816	0.83[ASN][1000 genomes]
rs11206817	0.83[ASN][1000 genomes]
rs11206818	0.83[ASN][1000 genomes]
rs11206823	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11206825	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2210617	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896948	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4912291	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525717	0.86[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56902000-56912200	Weak transcription	Lung	lung
2	chr1:56904200-56912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56905400-56942600	Weak transcription	Gastric	stomach
4	chr1:56905600-56914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:56905800-56912200	Weak transcription	Spleen	Spleen
6	chr1:56906000-56913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:56906000-56914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:56907600-56912200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:56908400-56912200	Weak transcription	Brain Substantia Nigra	brain
10	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:56909200-56915800	Enhancers	HepG2	liver
12	chr1:56910000-56916200	Enhancers	Liver	Liver
13	chr1:56910400-56912800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:56911200-56913200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:56911400-56913000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:56911800-56912200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:56911800-56912200	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:56911800-56913000	Enhancers	Fetal Muscle Leg	muscle
19	chr1:56911800-56913400	Enhancers	Fetal Stomach	stomach
20	chr1:56911800-56913400	Enhancers	Psoas Muscle	Psoas
21	chr1:56911800-56913600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:56911800-56914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:56912000-56912200	Weak transcription	Aorta	Aorta
24	chr1:56912000-56912200	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:56912000-56912200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:56912000-56912400	Enhancers	Colon Smooth Muscle	Colon
27	chr1:56912000-56912600	Enhancers	NH-A	brain
28	chr1:56912000-56912800	Enhancers	Esophagus	oesophagus
29	chr1:56912000-56912800	Enhancers	Fetal Lung	lung
30	chr1:56912000-56912800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:56912000-56912800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:56912000-56912800	Enhancers	Osteobl	bone
33	chr1:56912000-56913000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:56912000-56913000	Enhancers	NHLF	lung
35	chr1:56912000-56913200	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:56912000-56913600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:56912000-56913600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:56912000-56913800	Enhancers	Right Ventricle	heart
39	chr1:56912000-56913800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:56912000-56914400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:56912000-56915000	Enhancers	Adipose Nuclei	Adipose
42	chr1:56912000-56915200	Enhancers	NHDF-Ad	bronchial
43	chr1:56912000-56916200	Enhancers	Right Atrium	heart
44	chr1:56912000-56916400	Enhancers	Hela-S3	cervix
45	chr1:56912000-56916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:56912000-56916600	Enhancers	Left Ventricle	heart

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