Variant report

Variant	rs11676288
Chromosome Location	chr2:47096958-47096959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47090932..47093408-chr2:47096445..47099891,3	K562	blood:
2	chr2:47090932..47093573-chr2:47096507..47098413,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10171029	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11125099	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11687528	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687608	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11691225	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12990097	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13003608	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35076028	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8622	0.83[EUR][1000 genomes];0.90[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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47087800-47097400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:47093000-47097800	Enhancers	Left Ventricle	heart
4	chr2:47093600-47097000	Enhancers	Spleen	Spleen
5	chr2:47093800-47098000	Enhancers	Right Ventricle	heart
6	chr2:47093800-47098200	Enhancers	Lung	lung
7	chr2:47094000-47100600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:47094000-47104200	Weak transcription	Gastric	stomach
9	chr2:47094200-47098200	Weak transcription	K562	blood
10	chr2:47094200-47100200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:47094200-47100400	Weak transcription	Colonic Mucosa	Colon
12	chr2:47094200-47100400	Weak transcription	Small Intestine	intestine
13	chr2:47094400-47101000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:47094600-47100200	Weak transcription	Ovary	ovary
15	chr2:47094800-47097000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:47095200-47097400	Weak transcription	Esophagus	oesophagus
17	chr2:47095200-47100000	Weak transcription	HUVEC	blood vessel
18	chr2:47095200-47100600	Weak transcription	Stomach Mucosa	stomach
19	chr2:47095200-47100800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:47095200-47104200	Weak transcription	Pancreas	Pancrea
21	chr2:47095600-47097400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:47095600-47097800	Enhancers	Right Atrium	heart
23	chr2:47095600-47100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:47095800-47098000	Enhancers	Fetal Stomach	stomach
25	chr2:47095800-47100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:47095800-47100200	Weak transcription	NHEK	skin
27	chr2:47096000-47099600	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:47096200-47097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:47096200-47097600	Enhancers	Fetal Lung	lung
30	chr2:47096200-47098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:47096200-47100600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:47096200-47103200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:47096200-47105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:47096400-47097800	Enhancers	NHLF	lung
35	chr2:47096400-47098200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:47096400-47099400	Enhancers	Fetal Muscle Leg	muscle
37	chr2:47096600-47097000	Enhancers	HMEC	breast
38	chr2:47096600-47097200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:47096600-47106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:47096800-47097200	Enhancers	Fetal Heart	heart
41	chr2:47096800-47097200	Enhancers	NH-A	brain
42	chr2:47096800-47097600	Enhancers	A549	lung
43	chr2:47096800-47097800	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:47096800-47098000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:47096800-47098200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:47096800-47098200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:47096800-47100800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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