Variant report

Variant	rs8042640
Chromosome Location	chr15:56234012-56234013
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10744958	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12593446	0.82[ASN][1000 genomes]
rs12594053	0.85[ASN][1000 genomes]
rs1605837	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16976653	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17819294	0.82[ASN][1000 genomes]
rs34552316	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4774229	0.81[ASN][1000 genomes]
rs6493827	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6493828	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs71476756	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7163864	0.88[ASN][1000 genomes]
rs7182280	0.81[ASN][1000 genomes]
rs967128	0.85[AFR][1000 genomes];0.84[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	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56209600-56247400	Weak transcription	Psoas Muscle	Psoas
2	chr15:56211800-56242400	Weak transcription	Hela-S3	cervix
3	chr15:56221600-56242400	Weak transcription	NHEK	skin
4	chr15:56222200-56234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:56226200-56245800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:56228800-56234600	Weak transcription	Placenta	Placenta
7	chr15:56229400-56234600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:56229400-56259000	Weak transcription	Ovary	ovary
9	chr15:56229400-56259400	Weak transcription	Small Intestine	intestine
10	chr15:56229600-56251600	Weak transcription	K562	blood
11	chr15:56229600-56282600	Weak transcription	NHLF	lung
12	chr15:56229800-56235200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:56229800-56235400	Weak transcription	Dnd41	blood
14	chr15:56229800-56242600	Weak transcription	Osteobl	bone
15	chr15:56229800-56259000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:56230200-56237000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:56230400-56235600	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:56230400-56242600	Weak transcription	HSMM	muscle
19	chr15:56230600-56235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:56230800-56242400	Weak transcription	A549	lung
21	chr15:56231000-56234600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:56231000-56244600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:56231400-56234200	Weak transcription	Liver	Liver
24	chr15:56231400-56234400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:56231400-56235200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:56231400-56235400	Weak transcription	Fetal Lung	lung
27	chr15:56231400-56235600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:56231400-56284200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:56231600-56234600	Weak transcription	Aorta	Aorta
30	chr15:56231600-56234800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:56231600-56235200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:56231600-56235400	Weak transcription	Fetal Intestine Small	intestine
33	chr15:56231600-56235400	Weak transcription	Fetal Stomach	stomach
34	chr15:56231600-56235600	Weak transcription	Esophagus	oesophagus
35	chr15:56231600-56260000	Weak transcription	Left Ventricle	heart
36	chr15:56232200-56251600	Weak transcription	HSMMtube	muscle
37	chr15:56232600-56238200	Weak transcription	Thymus	Thymus
38	chr15:56232600-56257200	Weak transcription	Primary T cells from cord blood	blood
39	chr15:56232800-56235200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:56232800-56235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:56233000-56234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:56233400-56234400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr15:56233400-56242600	Weak transcription	HMEC	breast
44	chr15:56233800-56234400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:56233800-56236000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:56233800-56236200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:56233800-56236800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:56234000-56234200	Enhancers	Primary hematopoietic stem cells	blood
49	chr15:56234000-56234400	Enhancers	HUVEC	blood vessel
50	chr15:56234000-56235000	Weak transcription	Adipose Nuclei	Adipose

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