Variant report

Variant	rs12050585
Chromosome Location	chr15:75226833-75226834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74907070..74909700-chr15:75225919..75227772,2	K562	blood:
2	chr15:75198406..75199931-chr15:75225105..75227266,2	MCF-7	breast:
3	chr15:75126487..75129177-chr15:75225564..75229328,3	K562	blood:
4	chr15:75226056..75232063-chr15:75248745..75252832,9	MCF-7	breast:
5	chr15:75219083..75221777-chr15:75225866..75227747,2	K562	blood:
6	chr15:75126584..75129177-chr15:75226754..75229328,2	K562	blood:
7	chr15:75180021..75183481-chr15:75226759..75230284,3	K562	blood:
8	chr15:75226664..75233309-chr15:75245862..75252227,16	K562	blood:
9	chr15:75226234..75228164-chr15:75247599..75249841,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179335	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000178802	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12385940	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28844983	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886642	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68036747	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7182183	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72625793	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8025170	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8029351	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8030528	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8037152	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75199600-75229400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75204000-75228400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:75204600-75229200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:75207800-75227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:75212400-75229600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:75212600-75229200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:75213200-75227000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:75213200-75227000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:75213600-75227600	Weak transcription	Psoas Muscle	Psoas
10	chr15:75217400-75229400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:75220200-75227400	Weak transcription	Right Ventricle	heart
12	chr15:75221400-75229800	Weak transcription	Spleen	Spleen
13	chr15:75221600-75227200	Weak transcription	Brain Anterior Caudate	brain
14	chr15:75221600-75227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:75221600-75227400	Weak transcription	Brain Angular Gyrus	brain
16	chr15:75221600-75228000	Weak transcription	Fetal Brain Male	brain
17	chr15:75221600-75228600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:75221600-75229200	Weak transcription	Fetal Kidney	kidney
19	chr15:75221600-75229200	Weak transcription	HSMMtube	muscle
20	chr15:75221600-75229400	Weak transcription	Aorta	Aorta
21	chr15:75221600-75229400	Weak transcription	Ovary	ovary
22	chr15:75221600-75229600	Weak transcription	Gastric	stomach
23	chr15:75221800-75228600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:75221800-75228800	Weak transcription	Fetal Brain Female	brain
25	chr15:75222000-75227000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:75222000-75228200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:75222000-75228600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr15:75222000-75228800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:75222000-75228800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:75222000-75229200	Weak transcription	NHDF-Ad	bronchial
31	chr15:75222200-75227000	Weak transcription	Colonic Mucosa	Colon
32	chr15:75222200-75227400	Weak transcription	Primary B cells from cord blood	blood
33	chr15:75222200-75227600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:75222200-75228200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr15:75222200-75228800	Weak transcription	NHLF	lung
36	chr15:75222200-75229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:75222200-75229200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:75222200-75229200	Weak transcription	Brain Substantia Nigra	brain
39	chr15:75222200-75229200	Weak transcription	Esophagus	oesophagus
40	chr15:75222200-75229200	Weak transcription	NH-A	brain
41	chr15:75222400-75227000	Weak transcription	Dnd41	blood
42	chr15:75222400-75229200	Weak transcription	HSMM	muscle
43	chr15:75223000-75229200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:75223000-75229400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:75223600-75228600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:75223600-75229200	Weak transcription	HMEC	breast
47	chr15:75223800-75227000	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:75223800-75227400	Weak transcription	Brain Germinal Matrix	brain
49	chr15:75223800-75228200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:75223800-75228600	Weak transcription	Primary hematopoietic stem cells	blood

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