Variant report

Variant	rs62043847
Chromosome Location	chr15:56203250-56203251
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	chr15:56202601..56204627-chr15:56205006..56206876,2	MCF-7	breast:
2	chr15:56199692..56201562-chr15:56202025..56204154,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12898553	0.89[ASN][1000 genomes]
rs17238482	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17238489	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17819282	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17819300	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136386	0.85[EUR][1000 genomes]
rs2175104	0.85[EUR][1000 genomes]
rs55782406	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55858643	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55908996	0.81[EUR][1000 genomes]
rs55999037	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56109562	0.81[EUR][1000 genomes]
rs56339902	0.81[EUR][1000 genomes]
rs62043760	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62043761	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62043763	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62043764	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62043792	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043793	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043796	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043801	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62043802	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62043810	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62043815	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62043816	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62043854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043858	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62045161	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62045162	0.85[EUR][1000 genomes]
rs62045163	0.85[EUR][1000 genomes]
rs62045164	0.85[EUR][1000 genomes]
rs62045205	0.85[EUR][1000 genomes]
rs62045207	0.85[EUR][1000 genomes]
rs62045208	0.85[EUR][1000 genomes]
rs62045219	0.81[EUR][1000 genomes]
rs62046648	0.85[ASN][1000 genomes]
rs62046649	0.85[ASN][1000 genomes]
rs62046650	0.85[ASN][1000 genomes]

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	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv569542	chr15:56185262-56210929	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv528617	chr15:56202069-56207983	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56176000-56216200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:56188400-56207800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:56188600-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:56190000-56220000	Weak transcription	Pancreas	Pancrea
5	chr15:56190200-56221200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:56190400-56219800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:56192400-56207800	Weak transcription	Liver	Liver
8	chr15:56192600-56209000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:56199200-56203600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:56199400-56203800	Flanking Active TSS	A549	lung
11	chr15:56199800-56203600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:56200200-56203600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:56200200-56208600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:56200200-56213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:56200400-56203600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:56200400-56209000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:56200800-56218000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:56201000-56230000	Weak transcription	Fetal Intestine Large	intestine
19	chr15:56201200-56217200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:56201400-56203600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:56201800-56205800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:56202000-56203400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:56202000-56203600	Enhancers	NHEK	skin
24	chr15:56202000-56207000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:56202200-56203600	Enhancers	HMEC	breast
26	chr15:56202200-56204800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:56202200-56204800	Weak transcription	NH-A	brain
28	chr15:56202200-56205000	Weak transcription	NHLF	lung
29	chr15:56202200-56207800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:56202400-56203600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr15:56202600-56204400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:56202600-56204800	Weak transcription	Hela-S3	cervix
33	chr15:56202800-56204800	Weak transcription	NHDF-Ad	bronchial
34	chr15:56202800-56204800	Weak transcription	Osteobl	bone
35	chr15:56203200-56203400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:56203200-56203400	Flanking Active TSS	HSMMtube	muscle
37	chr15:56203200-56203600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr15:56203200-56203600	Flanking Active TSS	Psoas Muscle	Psoas
39	chr15:56203200-56203600	Enhancers	HepG2	liver
40	chr15:56203200-56203600	Genic enhancers	HSMM	muscle
41	chr15:56203200-56203800	Enhancers	Skeletal Muscle Male	skeletal muscle

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