Variant report

Variant	rs2414129
Chromosome Location	chr15:52387775-52387776
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52309194..52314432-chr15:52385325..52393461,10	MCF-7	breast:
2	chr15:52385731..52388322-chr15:52391743..52394058,2	MCF-7	breast:
3	chr15:52262398..52265193-chr15:52386264..52389426,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000259712	Chromatin interaction
ENSG00000166477	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12439307	0.88[CHD][hapmap]
rs16964728	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs2288559	1.00[CEU][hapmap]
rs3794545	1.00[CEU][hapmap]
rs3794546	1.00[CEU][hapmap]
rs7166828	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52384800-52388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:52385000-52387800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:52385000-52387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:52385000-52387800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:52385000-52387800	Enhancers	NHLF	lung
6	chr15:52385000-52388400	Enhancers	HMEC	breast
7	chr15:52385400-52387800	Enhancers	Ovary	ovary
8	chr15:52385400-52387800	Flanking Active TSS	Hela-S3	cervix
9	chr15:52385600-52387800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr15:52385600-52388000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:52385800-52395400	Weak transcription	Fetal Kidney	kidney
12	chr15:52386000-52388400	Enhancers	Adipose Nuclei	Adipose
13	chr15:52386200-52388000	Enhancers	HUVEC	blood vessel
14	chr15:52386200-52399000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:52386400-52387800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:52386400-52391000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:52386600-52387800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:52386600-52388400	Enhancers	GM12878-XiMat	blood
19	chr15:52386600-52389400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr15:52386600-52389400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:52386600-52390800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:52386600-52393000	Weak transcription	Right Atrium	heart
23	chr15:52386800-52387800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:52386800-52388600	Enhancers	Osteobl	bone
25	chr15:52386800-52390600	Weak transcription	Liver	Liver
26	chr15:52386800-52392600	Weak transcription	Placenta	Placenta
27	chr15:52387000-52388000	Enhancers	HSMM	muscle
28	chr15:52387200-52387800	Weak transcription	Aorta	Aorta
29	chr15:52387200-52390400	Weak transcription	HepG2	liver
30	chr15:52387400-52387800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr15:52387400-52387800	Enhancers	HSMMtube	muscle
32	chr15:52387400-52387800	Flanking Active TSS	NHEK	skin
33	chr15:52387400-52388200	Flanking Active TSS	A549	lung
34	chr15:52387400-52389400	Weak transcription	Fetal Intestine Small	intestine
35	chr15:52387600-52387800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:52387600-52388200	Enhancers	K562	blood
37	chr15:52387600-52388400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:52387600-52388600	Enhancers	NHDF-Ad	bronchial
39	chr15:52387600-52389000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:52387600-52389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:52387600-52389400	Weak transcription	Colonic Mucosa	Colon
42	chr15:52387600-52389400	Weak transcription	Fetal Intestine Large	intestine
43	chr15:52387600-52389400	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:52387600-52389400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:52387600-52389800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:52387600-52392200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:52387600-52392600	Weak transcription	NH-A	brain
48	chr15:52387600-52395200	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:52387600-52395400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:52387600-52395400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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