Variant report

Variant	rs73926585
Chromosome Location	chr2:47007968-47007969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47005678..47008315-chr2:47011541..47013639,2	MCF-7	breast:
2	chr2:47006608..47009505-chr2:47024005..47026288,2	K562	blood:
3	chr2:46872190..46873901-chr2:47005919..47008590,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10164807	1.00[AMR][1000 genomes]
rs10172110	1.00[AMR][1000 genomes]
rs10189994	1.00[AMR][1000 genomes]
rs10190001	1.00[AMR][1000 genomes]
rs10190187	1.00[AMR][1000 genomes]
rs11125088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399713	1.00[AMR][1000 genomes]
rs13402553	1.00[AMR][1000 genomes]
rs13418951	1.00[AMR][1000 genomes]
rs28702871	1.00[AMR][1000 genomes]
rs41409850	1.00[AMR][1000 genomes]
rs41483445	1.00[AMR][1000 genomes]
rs6711782	1.00[AMR][1000 genomes]
rs6714964	1.00[AMR][1000 genomes]
rs6716072	1.00[AMR][1000 genomes]
rs6759784	1.00[AMR][1000 genomes]
rs6760403	1.00[AMR][1000 genomes]
rs73926574	1.00[AMR][1000 genomes]
rs7566758	1.00[AMR][1000 genomes]
rs7573534	1.00[AMR][1000 genomes]
rs9807932	1.00[AMR][1000 genomes]
rs9808073	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808427	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv3330992	chr2:47007800-47007996	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:47001000-47008600	Enhancers	Osteobl	bone
3	chr2:47005000-47008600	Enhancers	HepG2	liver
4	chr2:47005200-47009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:47005200-47010000	Enhancers	Fetal Lung	lung
6	chr2:47005400-47009200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47005400-47009200	Enhancers	NHLF	lung
8	chr2:47005400-47009400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:47005400-47012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:47005600-47008200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:47005600-47008200	Enhancers	HMEC	breast
12	chr2:47005600-47009400	Enhancers	Fetal Heart	heart
13	chr2:47005600-47009400	Enhancers	NHDF-Ad	bronchial
14	chr2:47005600-47010000	Enhancers	Left Ventricle	heart
15	chr2:47005800-47008200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:47005800-47008200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:47005800-47008400	Enhancers	NH-A	brain
18	chr2:47005800-47009000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:47005800-47009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:47005800-47009800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:47006000-47008200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:47006000-47008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:47006200-47008600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:47006400-47008400	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:47006400-47009000	Enhancers	Stomach Mucosa	stomach
26	chr2:47006400-47009800	Enhancers	Fetal Stomach	stomach
27	chr2:47006400-47009800	Enhancers	Right Ventricle	heart
28	chr2:47006600-47008000	Enhancers	Colon Smooth Muscle	Colon
29	chr2:47006600-47009200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:47006600-47009200	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:47006600-47009400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:47006600-47009800	Enhancers	Fetal Muscle Leg	muscle
33	chr2:47006600-47009800	Enhancers	Lung	lung
34	chr2:47006600-47009800	Enhancers	Right Atrium	heart
35	chr2:47006800-47009400	Enhancers	Adipose Nuclei	Adipose
36	chr2:47006800-47009400	Enhancers	Placenta	Placenta
37	chr2:47006800-47009800	Enhancers	Spleen	Spleen
38	chr2:47006800-47010000	Enhancers	Psoas Muscle	Psoas
39	chr2:47006800-47010000	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:47007000-47008200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:47007000-47009600	Enhancers	Ovary	ovary
42	chr2:47007000-47009600	Weak transcription	Pancreas	Pancrea
43	chr2:47007200-47008400	Enhancers	Aorta	Aorta
44	chr2:47007200-47008400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr2:47007200-47008800	Enhancers	Brain Hippocampus Middle	brain
46	chr2:47007200-47009000	Enhancers	Brain Substantia Nigra	brain
47	chr2:47007400-47008000	Weak transcription	Brain Angular Gyrus	brain
48	chr2:47007400-47008000	Enhancers	NHEK	skin
49	chr2:47007400-47008200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:47007400-47008600	Enhancers	Brain Anterior Caudate	brain

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