Variant report

Variant	rs13427996
Chromosome Location	chr2:182653332-182653333
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182647541..182657734-chr2:182753295..182760748,23	MCF-7	breast:
2	chr2:182652862..182655320-chr2:182765271..182767272,2	MCF-7	breast:
3	chr2:182645215..182647741-chr2:182652412..182654174,2	K562	blood:
4	chr2:182646086..182659083-chr2:182754079..182762654,36	MCF-7	breast:
5	chr2:182649357..182651111-chr2:182651745..182654044,2	MCF-7	breast:
6	chr2:182649909..182651915-chr2:182653150..182656385,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11904385	0.83[AMR][1000 genomes]
rs13391116	0.83[AMR][1000 genomes]
rs13431885	0.83[AMR][1000 genomes]
rs73031000	0.83[AMR][1000 genomes]
rs9288075	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182642200-182657200	Enhancers	Hela-S3	cervix
2	chr2:182646600-182653400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:182646600-182654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:182648000-182657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:182648600-182657200	Enhancers	HMEC	breast
6	chr2:182648800-182654600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:182648800-182657000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:182649200-182656200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:182649600-182654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:182649600-182657200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:182650000-182653600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:182650000-182655400	Enhancers	NHEK	skin
13	chr2:182650200-182657000	Enhancers	Fetal Intestine Large	intestine
14	chr2:182650800-182654800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:182651000-182653600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:182651000-182653600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:182651000-182653600	Weak transcription	NH-A	brain
18	chr2:182651000-182655600	Weak transcription	HSMMtube	muscle
19	chr2:182651000-182655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:182651200-182653800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:182651200-182653800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:182651200-182656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:182651200-182657000	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:182651200-182657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:182651400-182653400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:182651400-182653400	Weak transcription	Osteobl	bone
27	chr2:182651400-182653600	Weak transcription	NHDF-Ad	bronchial
28	chr2:182651400-182653800	Weak transcription	A549	lung
29	chr2:182651400-182654800	Weak transcription	HSMM	muscle
30	chr2:182651600-182653600	Weak transcription	NHLF	lung
31	chr2:182651800-182653600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:182652000-182654600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:182652000-182654800	Weak transcription	Pancreas	Pancrea
34	chr2:182652000-182655400	Weak transcription	Placenta	Placenta
35	chr2:182652200-182657400	Enhancers	HUVEC	blood vessel
36	chr2:182652400-182655600	Weak transcription	Fetal Kidney	kidney
37	chr2:182652400-182657200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:182652600-182653800	Weak transcription	HepG2	liver
39	chr2:182652800-182654200	Weak transcription	Stomach Mucosa	stomach
40	chr2:182652800-182654800	Weak transcription	Thymus	Thymus
41	chr2:182652800-182654800	Weak transcription	K562	blood
42	chr2:182653000-182653600	Weak transcription	Fetal Intestine Small	intestine
43	chr2:182653000-182654000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:182653000-182654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:182653000-182654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:182653200-182654400	Weak transcription	Dnd41	blood
47	chr2:182653200-182654600	Weak transcription	Fetal Thymus	thymus
48	chr2:182653200-182654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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