Variant report

Variant	rs13023256
Chromosome Location	chr2:191066926-191066927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191062978..191067308-chr2:191069746..191072703,3	K562	blood:

Variant related genes	Relation type
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 23 )
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]
rs34664133	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34816431	1.00[AFR][1000 genomes];1.00[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:3 , 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
3	nsv963970	chr2:191065152-191068296	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191074000	Weak transcription	HMEC	breast
2	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
3	chr2:191046400-191070400	Weak transcription	Fetal Stomach	stomach
4	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
5	chr2:191047000-191080400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:191047600-191081000	Weak transcription	Brain Anterior Caudate	brain
7	chr2:191048200-191073800	Weak transcription	Aorta	Aorta
8	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:191053000-191078200	Weak transcription	Right Ventricle	heart
10	chr2:191056600-191070200	Weak transcription	NHDF-Ad	bronchial
11	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:191056800-191131800	Weak transcription	NHEK	skin
13	chr2:191057000-191078400	Weak transcription	Thymus	Thymus
14	chr2:191057200-191076200	Weak transcription	Fetal Kidney	kidney
15	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
16	chr2:191058000-191076000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:191060200-191078600	Weak transcription	NH-A	brain
19	chr2:191060200-191090600	Weak transcription	A549	lung
20	chr2:191060400-191068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:191060400-191076600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:191060600-191072000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:191060600-191074000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:191060600-191078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
26	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
27	chr2:191060800-191079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
29	chr2:191061000-191070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:191061200-191070200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:191061400-191068600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:191062200-191079000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:191062400-191069800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:191062400-191081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:191062400-191081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:191062600-191069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:191062600-191074800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:191062600-191078600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:191062600-191081200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:191062800-191069800	Weak transcription	Osteobl	bone
43	chr2:191062800-191073800	Weak transcription	Fetal Thymus	thymus
44	chr2:191062800-191079800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:191062800-191081400	Weak transcription	Placenta	Placenta
46	chr2:191062800-191088000	Weak transcription	Fetal Brain Male	brain
47	chr2:191062800-191088600	Weak transcription	Spleen	Spleen
48	chr2:191063200-191078000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:191063200-191083400	Weak transcription	Lung	lung
50	chr2:191063400-191079800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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