Variant report

Variant	rs11687139
Chromosome Location	chr2:180048855-180048856
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	chr2:180045016..180046890-chr2:180047637..180050152,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10169713	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12328184	0.81[EUR][1000 genomes]
rs12693176	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12693177	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022632	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13382185	0.82[AFR][1000 genomes]
rs13396340	0.81[AFR][1000 genomes]
rs1446673	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1844763	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2166534	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28838656	0.83[AFR][1000 genomes]
rs4894081	0.85[EUR][1000 genomes]
rs4894082	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6743412	0.81[AFR][1000 genomes]
rs747475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601366	0.82[AFR][1000 genomes]
rs9653299	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
2	chr2:179980000-180056800	Weak transcription	HSMM	muscle
3	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
4	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
5	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
6	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:180015000-180060600	Weak transcription	Lung	lung
10	chr2:180015400-180049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
12	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:180016000-180049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
15	chr2:180016200-180054000	Weak transcription	Osteobl	bone
16	chr2:180023000-180052800	Weak transcription	Fetal Heart	heart
17	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
18	chr2:180030800-180050800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:180031200-180052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:180031400-180050000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:180032200-180050800	Weak transcription	NHEK	skin
22	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:180033000-180049600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:180036600-180051800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:180036600-180053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:180040800-180051000	Weak transcription	Fetal Intestine Large	intestine
28	chr2:180041000-180051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:180041200-180051000	Weak transcription	HMEC	breast
32	chr2:180041200-180053200	Weak transcription	Brain Anterior Caudate	brain
33	chr2:180041200-180056000	Weak transcription	Fetal Thymus	thymus
34	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
35	chr2:180041200-180058800	Weak transcription	Ovary	ovary
36	chr2:180043000-180053200	Weak transcription	Brain Substantia Nigra	brain
37	chr2:180043200-180055200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:180043400-180052600	Weak transcription	Brain Angular Gyrus	brain
39	chr2:180043600-180049200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:180043600-180049400	Weak transcription	Aorta	Aorta
41	chr2:180043600-180058800	Weak transcription	Gastric	stomach
42	chr2:180044400-180049000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:180044400-180049400	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:180044600-180054800	Weak transcription	Fetal Lung	lung
45	chr2:180045000-180054800	Weak transcription	Fetal Kidney	kidney
46	chr2:180045800-180051600	Weak transcription	Primary B cells from cord blood	blood
47	chr2:180046000-180054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:180046200-180053200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:180046200-180053400	Weak transcription	Brain Inferior Temporal Lobe	brain

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