Variant report

Variant	rs10191091
Chromosome Location	chr2:46573210-46573211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46566941..46569301-chr2:46571464..46574433,4	K562	blood:
2	chr2:46568373..46571893-chr2:46572786..46575351,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12467821	0.81[CEU][hapmap]
rs13019268	0.84[MEX][hapmap]
rs1530631	0.85[CEU][hapmap]
rs1530633	0.89[CEU][hapmap]
rs1562452	0.96[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1562453	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2881324	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768730	0.89[MEX][hapmap]
rs4953356	0.85[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4953358	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4953359	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6544887	0.96[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6544888	0.96[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6544889	0.96[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6544890	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6707241	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs6724065	0.88[EUR][1000 genomes]
rs6735812	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6740096	0.85[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6743991	0.85[CEU][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6756667	0.85[CEU][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs7568285	0.81[CEU][hapmap]
rs7586141	0.83[EUR][1000 genomes]
rs7594912	0.81[CEU][hapmap]

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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 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	chr2:46563800-46579000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:46564600-46578800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:46564800-46573800	Weak transcription	Esophagus	oesophagus
4	chr2:46565200-46574200	Weak transcription	Thymus	Thymus
5	chr2:46565200-46574400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:46565600-46573800	Weak transcription	HMEC	breast
7	chr2:46565800-46574400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:46566000-46573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:46566000-46575200	Weak transcription	HSMMtube	muscle
10	chr2:46566200-46574000	Weak transcription	Colonic Mucosa	Colon
11	chr2:46566600-46579200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:46567000-46574000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:46567000-46576800	Genic enhancers	Placenta	Placenta
14	chr2:46567400-46584600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:46567600-46574400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:46567600-46576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:46567800-46575000	Weak transcription	Brain Substantia Nigra	brain
18	chr2:46568000-46574000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:46568000-46596600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:46568200-46574000	Weak transcription	Gastric	stomach
21	chr2:46568200-46575000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:46568400-46574000	Weak transcription	A549	lung
23	chr2:46568800-46574800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:46569200-46573400	Enhancers	Ovary	ovary
25	chr2:46569400-46574000	Enhancers	Adipose Nuclei	Adipose
26	chr2:46569600-46573800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:46569600-46574600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:46570200-46584800	Weak transcription	Small Intestine	intestine
29	chr2:46571400-46573600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:46571400-46574000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:46571400-46574000	Enhancers	Aorta	Aorta
32	chr2:46571600-46573800	Weak transcription	Brain Anterior Caudate	brain
33	chr2:46571600-46573800	Weak transcription	Spleen	Spleen
34	chr2:46571600-46574000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:46571600-46574400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:46571800-46573600	Weak transcription	Pancreas	Pancrea
37	chr2:46571800-46573600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:46572000-46574800	Weak transcription	Psoas Muscle	Psoas
39	chr2:46572000-46584600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:46572200-46574000	Weak transcription	NHLF	lung
41	chr2:46572200-46574800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:46572200-46577600	Weak transcription	Fetal Lung	lung
43	chr2:46572400-46574000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:46572400-46574000	Weak transcription	Osteobl	bone
45	chr2:46572400-46583200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:46572600-46573600	Weak transcription	Fetal Stomach	stomach
47	chr2:46572600-46573600	Enhancers	Left Ventricle	heart
48	chr2:46572600-46573800	Enhancers	Right Ventricle	heart
49	chr2:46572600-46574000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:46572600-46574000	Enhancers	Duodenum Mucosa	Duodenum

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