Variant report

Variant	rs11125099
Chromosome Location	chr2:47096447-47096448
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:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10171029	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676288	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11687528	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687608	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691225	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12990097	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13003608	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13405966	0.85[EUR][1000 genomes]
rs35076028	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8622	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[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:43 , 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	chr2:47089200-47096800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:47091400-47096600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:47093000-47097800	Enhancers	Left Ventricle	heart
6	chr2:47093600-47096800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:47093600-47097000	Enhancers	Spleen	Spleen
8	chr2:47093800-47098000	Enhancers	Right Ventricle	heart
9	chr2:47093800-47098200	Enhancers	Lung	lung
10	chr2:47094000-47100600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:47094000-47104200	Weak transcription	Gastric	stomach
12	chr2:47094200-47096800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:47094200-47098200	Weak transcription	K562	blood
14	chr2:47094200-47100200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:47094200-47100400	Weak transcription	Colonic Mucosa	Colon
16	chr2:47094200-47100400	Weak transcription	Small Intestine	intestine
17	chr2:47094400-47096800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:47094400-47101000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:47094600-47096600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:47094600-47100200	Weak transcription	Ovary	ovary
21	chr2:47094800-47097000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:47095200-47097400	Weak transcription	Esophagus	oesophagus
23	chr2:47095200-47100000	Weak transcription	HUVEC	blood vessel
24	chr2:47095200-47100600	Weak transcription	Stomach Mucosa	stomach
25	chr2:47095200-47100800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:47095200-47104200	Weak transcription	Pancreas	Pancrea
27	chr2:47095400-47096600	Weak transcription	HMEC	breast
28	chr2:47095600-47097400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:47095600-47097800	Enhancers	Right Atrium	heart
30	chr2:47095600-47100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:47095800-47098000	Enhancers	Fetal Stomach	stomach
32	chr2:47095800-47100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:47095800-47100200	Weak transcription	NHEK	skin
34	chr2:47096000-47099600	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:47096200-47097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:47096200-47097600	Enhancers	Fetal Lung	lung
37	chr2:47096200-47098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:47096200-47100600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:47096200-47103200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:47096200-47105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:47096400-47097800	Enhancers	NHLF	lung
42	chr2:47096400-47098200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:47096400-47099400	Enhancers	Fetal Muscle Leg	muscle

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