Variant report

Variant	rs71476755
Chromosome Location	chr15:56243831-56243832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56242510..56244333-chr15:56247480..56249699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238513	Chromatin interaction

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

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

rs_ID	r²[population]
rs10518823	0.91[EUR][1000 genomes]
rs12439899	0.83[EUR][1000 genomes]
rs12898478	0.91[EUR][1000 genomes]
rs12901802	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12902173	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12904236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12908286	0.81[EUR][1000 genomes]
rs12911101	0.81[EUR][1000 genomes]
rs17819270	0.93[EUR][1000 genomes]
rs1912397	0.91[EUR][1000 genomes]
rs1912403	0.93[EUR][1000 genomes]
rs34162982	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34223710	0.96[EUR][1000 genomes]
rs34333169	0.81[EUR][1000 genomes]
rs34652186	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34718758	0.82[EUR][1000 genomes]
rs34727807	0.91[EUR][1000 genomes]
rs34995202	0.91[EUR][1000 genomes]
rs35086304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142499	0.96[EUR][1000 genomes]
rs35313340	0.81[EUR][1000 genomes]
rs35485562	0.83[EUR][1000 genomes]
rs4296197	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66473405	0.83[EUR][1000 genomes]
rs66857236	0.91[EUR][1000 genomes]
rs67046147	0.93[EUR][1000 genomes]
rs67825863	0.91[EUR][1000 genomes]
rs71476753	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71476760	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71476766	0.83[EUR][1000 genomes]
rs7172454	0.93[EUR][1000 genomes]
rs7182037	0.83[EUR][1000 genomes]
rs8038204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042074	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042216	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8043427	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs906811	0.94[AMR][1000 genomes];1.00[EUR][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	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr15:56209600-56247400	Weak transcription	Psoas Muscle	Psoas
2	chr15:56226200-56245800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:56229400-56259000	Weak transcription	Ovary	ovary
4	chr15:56229400-56259400	Weak transcription	Small Intestine	intestine
5	chr15:56229600-56251600	Weak transcription	K562	blood
6	chr15:56229600-56282600	Weak transcription	NHLF	lung
7	chr15:56229800-56259000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:56231000-56244600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:56231400-56284200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:56231600-56260000	Weak transcription	Left Ventricle	heart
11	chr15:56232200-56251600	Weak transcription	HSMMtube	muscle
12	chr15:56232600-56257200	Weak transcription	Primary T cells from cord blood	blood
13	chr15:56235800-56253600	Weak transcription	Fetal Lung	lung
14	chr15:56236000-56246000	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:56236000-56258200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:56236000-56259000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:56236000-56261200	Weak transcription	Esophagus	oesophagus
18	chr15:56236200-56257000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:56236200-56257000	Weak transcription	Aorta	Aorta
20	chr15:56236200-56276000	Weak transcription	HUVEC	blood vessel
21	chr15:56236600-56244600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:56236600-56257000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:56236800-56247200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:56236800-56251600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:56236800-56257000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:56236800-56282800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:56237000-56244600	Weak transcription	Fetal Intestine Small	intestine
28	chr15:56237000-56251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:56237800-56244000	Weak transcription	HepG2	liver
30	chr15:56238200-56257000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:56240000-56247200	Weak transcription	Gastric	stomach
32	chr15:56241000-56261400	Weak transcription	Pancreas	Pancrea
33	chr15:56241800-56247200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:56242800-56255600	Weak transcription	Hela-S3	cervix
35	chr15:56243000-56247200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:56243000-56257000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:56243200-56244200	Weak transcription	Fetal Intestine Large	intestine
38	chr15:56243200-56244600	Weak transcription	A549	lung
39	chr15:56243200-56248000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:56243200-56250400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:56243200-56251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:56243200-56253200	Weak transcription	NHEK	skin
43	chr15:56243200-56253400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:56243200-56255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:56243200-56256400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:56243200-56256400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:56243200-56276200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:56243400-56253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:56243400-56253000	Weak transcription	HMEC	breast
50	chr15:56243400-56253200	Weak transcription	HSMM	muscle

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