Variant report

Variant	rs11673831
Chromosome Location	chr2:172632930-172632931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11675404	0.83[AMR][1000 genomes]
rs11675891	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12991441	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13016580	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13017695	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13021138	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13024662	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1554259	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17427311	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17427473	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17499306	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17499502	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17848721	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1996424	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2138349	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2357062	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34108287	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34221876	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34632749	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34962243	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35162284	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3770459	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62182397	0.83[AMR][1000 genomes]
rs62182402	0.81[AMR][1000 genomes]
rs62184174	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72889853	0.88[EUR][1000 genomes]
rs74173119	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs979955	0.88[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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
2	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:172604400-172641200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:172618000-172639600	Weak transcription	Fetal Heart	heart
7	chr2:172618400-172639800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:172618400-172641000	Weak transcription	Aorta	Aorta
9	chr2:172618800-172640800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172619000-172638800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:172619000-172641000	Weak transcription	Spleen	Spleen
12	chr2:172619200-172634600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:172619200-172635000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:172619200-172635200	Weak transcription	A549	lung
15	chr2:172619200-172638600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:172619200-172640800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:172619200-172641000	Weak transcription	Thymus	Thymus
18	chr2:172619200-172641600	Weak transcription	Gastric	stomach
19	chr2:172619200-172641800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:172619600-172640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172620000-172634200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:172620200-172634600	Weak transcription	Brain Angular Gyrus	brain
23	chr2:172620200-172641400	Weak transcription	NHEK	skin
24	chr2:172620400-172638600	Weak transcription	Primary B cells from cord blood	blood
25	chr2:172620400-172638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:172620400-172638600	Weak transcription	HSMM	muscle
27	chr2:172620400-172641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:172620400-172641600	Weak transcription	HUVEC	blood vessel
29	chr2:172620400-172641800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:172620600-172640000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:172620800-172634600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:172620800-172634600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:172620800-172634800	Weak transcription	NHDF-Ad	bronchial
34	chr2:172620800-172639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:172620800-172640600	Weak transcription	Left Ventricle	heart
36	chr2:172620800-172640800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:172621000-172634400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:172621000-172640000	Weak transcription	Osteobl	bone
39	chr2:172621000-172648000	Weak transcription	HSMMtube	muscle
40	chr2:172624400-172634600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:172624600-172634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:172624600-172640200	Weak transcription	Right Ventricle	heart
43	chr2:172624600-172640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:172625000-172634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:172628800-172640400	Weak transcription	Brain Anterior Caudate	brain
46	chr2:172631400-172640000	Weak transcription	Brain Germinal Matrix	brain
47	chr2:172632600-172633600	Enhancers	HepG2	liver
48	chr2:172632800-172633000	Weak transcription	Lung	lung

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