Variant report

Variant	rs73926706
Chromosome Location	chr2:47307402-47307403
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47305124..47307804-chr2:47314133..47316358,4	MCF-7	breast:
2	chr2:47302270..47304198-chr2:47307298..47308850,2	MCF-7	breast:
3	chr2:47303667..47305608-chr2:47307112..47308819,2	MCF-7	breast:
4	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
5	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
6	chr2:47304999..47307834-chr2:47310076..47312199,2	MCF-7	breast:
7	chr2:47304449..47306633-chr2:47306977..47308538,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11125115	0.90[AMR][1000 genomes]
rs6733891	0.82[AFR][1000 genomes]
rs6749079	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47300600-47310400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:47302200-47308400	Enhancers	Lung	lung
3	chr2:47302400-47307600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:47302400-47307600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:47302400-47308400	Enhancers	Placenta	Placenta
6	chr2:47302600-47307600	Enhancers	NHDF-Ad	bronchial
7	chr2:47302600-47308400	Enhancers	Stomach Mucosa	stomach
8	chr2:47302800-47308200	Enhancers	Colonic Mucosa	Colon
9	chr2:47303200-47308400	Enhancers	Pancreas	Pancrea
10	chr2:47303400-47308800	Enhancers	Adipose Nuclei	Adipose
11	chr2:47303600-47307600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:47303800-47308400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:47304200-47310800	Weak transcription	Primary B cells from cord blood	blood
14	chr2:47304400-47307600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:47305000-47307600	Enhancers	HSMM	muscle
16	chr2:47305200-47310000	Weak transcription	HMEC	breast
17	chr2:47305400-47307600	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:47305600-47307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:47305600-47307800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:47305600-47308400	Enhancers	Fetal Intestine Large	intestine
21	chr2:47305800-47307600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:47305800-47307600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:47305800-47307600	Enhancers	Brain Substantia Nigra	brain
24	chr2:47305800-47307600	Flanking Active TSS	HepG2	liver
25	chr2:47305800-47307600	Enhancers	NH-A	brain
26	chr2:47305800-47307800	Enhancers	Left Ventricle	heart
27	chr2:47305800-47307800	Enhancers	Right Atrium	heart
28	chr2:47305800-47308200	Enhancers	Brain Anterior Caudate	brain
29	chr2:47305800-47308400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:47305800-47310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:47306000-47307600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:47306000-47307600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:47306000-47307600	Enhancers	Fetal Lung	lung
34	chr2:47306000-47307600	Enhancers	Fetal Muscle Leg	muscle
35	chr2:47306000-47307600	Enhancers	Right Ventricle	heart
36	chr2:47306000-47307600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:47306000-47307600	Enhancers	NHLF	lung
38	chr2:47306000-47307600	Enhancers	Osteobl	bone
39	chr2:47306000-47307800	Enhancers	Fetal Heart	heart
40	chr2:47306000-47308200	Enhancers	Colon Smooth Muscle	Colon
41	chr2:47306000-47308600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:47306200-47307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:47306200-47307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:47306200-47307600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:47306200-47307600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:47306200-47307600	Enhancers	HUVEC	blood vessel
47	chr2:47306200-47307800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:47306200-47308200	Enhancers	Brain Angular Gyrus	brain
49	chr2:47306400-47307600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:47306400-47308200	Enhancers	Ovary	ovary

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