Variant report

Variant	rs34816431
Chromosome Location	chr2:191080174-191080175
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191072093..191074775-chr2:191077748..191080618,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSTN-2	chr2:191077682-191080835	NONHSAT076079

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11883584	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899314	0.85[AFR][1000 genomes]
rs13023256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34664133	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34918997	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35046568	0.85[AFR][1000 genomes]
rs35366099	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35529089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35530400	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35865039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35974968	0.82[AFR][1000 genomes]
rs36038433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57244571	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60824447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60857137	0.83[AMR][1000 genomes]
rs71434687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71434688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs925296	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875619	chr2:191062951-191112241	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
2	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
3	chr2:191047000-191080400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:191047600-191081000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:191056800-191131800	Weak transcription	NHEK	skin
8	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
9	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:191060200-191090600	Weak transcription	A549	lung
11	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
12	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
13	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
14	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:191062400-191081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:191062400-191081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:191062600-191081200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:191062800-191081400	Weak transcription	Placenta	Placenta
20	chr2:191062800-191088000	Weak transcription	Fetal Brain Male	brain
21	chr2:191062800-191088600	Weak transcription	Spleen	Spleen
22	chr2:191063200-191083400	Weak transcription	Lung	lung
23	chr2:191064600-191084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:191065000-191081400	Weak transcription	Pancreas	Pancrea
25	chr2:191065000-191084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:191065000-191086600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:191065000-191087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:191065000-191088600	Weak transcription	Esophagus	oesophagus
29	chr2:191065000-191088800	Weak transcription	Gastric	stomach
30	chr2:191065200-191086400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:191065600-191088200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:191067400-191085600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:191067400-191086400	Weak transcription	Stomach Mucosa	stomach
34	chr2:191067600-191109200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:191069800-191087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:191070800-191083600	Weak transcription	Adipose Nuclei	Adipose
37	chr2:191071000-191085800	Weak transcription	NHDF-Ad	bronchial
38	chr2:191071200-191088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:191072600-191081600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:191073200-191109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:191074600-191082400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:191075600-191080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:191075600-191088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:191076200-191080400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:191076200-191107200	Weak transcription	GM12878-XiMat	blood
46	chr2:191077000-191080400	Weak transcription	HSMM	muscle
47	chr2:191077000-191083200	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:191077000-191083200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:191077000-191083600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:191077000-191084000	Weak transcription	Primary B cells from peripheral blood	blood

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