Variant report

Variant	rs2184104
Chromosome Location	chr1:56912222-56912223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10888972	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11206815	0.90[EUR][1000 genomes]
rs12063481	1.00[JPT][hapmap]
rs12075340	1.00[JPT][hapmap]
rs12563470	1.00[JPT][hapmap]
rs1261410	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1889145	0.99[EUR][1000 genomes]
rs1964940	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2780292	0.89[EUR][1000 genomes]
rs6421497	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6588633	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6684929	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6687307	0.85[EUR][1000 genomes]
rs6693179	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6698602	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7365290	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7365293	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7368386	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7513178	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7513411	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7525346	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7527084	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7535319	0.85[AMR][1000 genomes];0.91[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56905600-56914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:56906000-56913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:56906000-56914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:56909200-56915800	Enhancers	HepG2	liver
7	chr1:56910000-56916200	Enhancers	Liver	Liver
8	chr1:56910400-56912800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:56911200-56913200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:56911400-56913000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:56911800-56913000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:56911800-56913400	Enhancers	Fetal Stomach	stomach
13	chr1:56911800-56913400	Enhancers	Psoas Muscle	Psoas
14	chr1:56911800-56913600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:56911800-56914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:56912000-56912400	Enhancers	Colon Smooth Muscle	Colon
17	chr1:56912000-56912600	Enhancers	NH-A	brain
18	chr1:56912000-56912800	Enhancers	Esophagus	oesophagus
19	chr1:56912000-56912800	Enhancers	Fetal Lung	lung
20	chr1:56912000-56912800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:56912000-56912800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:56912000-56912800	Enhancers	Osteobl	bone
23	chr1:56912000-56913000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:56912000-56913000	Enhancers	NHLF	lung
25	chr1:56912000-56913200	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:56912000-56913600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:56912000-56913600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:56912000-56913800	Enhancers	Right Ventricle	heart
29	chr1:56912000-56913800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:56912000-56914400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:56912000-56915000	Enhancers	Adipose Nuclei	Adipose
32	chr1:56912000-56915200	Enhancers	NHDF-Ad	bronchial
33	chr1:56912000-56916200	Enhancers	Right Atrium	heart
34	chr1:56912000-56916400	Enhancers	Hela-S3	cervix
35	chr1:56912000-56916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:56912000-56916600	Enhancers	Left Ventricle	heart
37	chr1:56912200-56912400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:56912200-56912400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:56912200-56912400	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:56912200-56912400	Enhancers	Fetal Kidney	kidney
41	chr1:56912200-56912800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:56912200-56912800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:56912200-56912800	Enhancers	Brain Substantia Nigra	brain
44	chr1:56912200-56912800	Enhancers	Fetal Heart	heart
45	chr1:56912200-56912800	Enhancers	Fetal Muscle Trunk	muscle
46	chr1:56912200-56912800	Enhancers	Lung	lung
47	chr1:56912200-56912800	Enhancers	Ovary	ovary
48	chr1:56912200-56912800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr1:56912200-56912800	Enhancers	Spleen	Spleen
50	chr1:56912200-56913000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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