Variant report

Variant	rs7180483
Chromosome Location	chr15:42790195-42790196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42781216..42785618-chr15:42786050..42793334,15	K562	blood:
2	chr15:42786351..42790033-chr15:42790160..42794805,5	K562	blood:
3	chr15:42782381..42786334-chr15:42789829..42792638,5	K562	blood:

Variant related genes	Relation type
ENSG00000103994	Chromatin interaction
ENSG00000092531	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10518766	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060291	1.00[ASN][1000 genomes]
rs1060293	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11022	1.00[ASN][1000 genomes]
rs11070376	1.00[ASN][1000 genomes]
rs11636577	1.00[ASN][1000 genomes]
rs16973320	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17709180	1.00[ASN][1000 genomes]
rs17709377	1.00[ASN][1000 genomes]
rs17766532	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900921	1.00[ASN][1000 genomes]
rs2899051	1.00[ASN][1000 genomes]
rs2899059	0.94[EUR][1000 genomes]
rs34359922	1.00[ASN][1000 genomes]
rs34643746	1.00[ASN][1000 genomes]
rs34792942	1.00[ASN][1000 genomes]
rs3986280	1.00[ASN][1000 genomes]
rs4923948	1.00[ASN][1000 genomes]
rs4924684	1.00[ASN][1000 genomes]
rs4924687	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357092	1.00[ASN][1000 genomes]
rs56982416	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58042601	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58641431	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59697584	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59705032	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60380503	1.00[ASN][1000 genomes]
rs60584955	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60812675	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61489160	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62022317	1.00[ASN][1000 genomes]
rs73402783	1.00[ASN][1000 genomes]
rs73402785	1.00[ASN][1000 genomes]
rs73404714	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404717	0.91[EUR][1000 genomes]
rs73404723	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404730	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404763	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406518	1.00[ASN][1000 genomes]
rs73406534	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406545	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009095	1.00[ASN][1000 genomes]
rs8033412	1.00[ASN][1000 genomes]

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	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42788400-42790200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:42788400-42790200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:42788400-42790200	Weak transcription	Gastric	stomach
4	chr15:42788400-42808000	Weak transcription	Esophagus	oesophagus
5	chr15:42788600-42790200	Weak transcription	Left Ventricle	heart
6	chr15:42788600-42790600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:42788600-42790800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:42788600-42791000	Enhancers	Primary B cells from peripheral blood	blood
9	chr15:42788600-42791400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:42788600-42792400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:42788600-42798400	Weak transcription	Ovary	ovary
12	chr15:42788600-42805600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:42788600-42806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:42788600-42807200	Weak transcription	Fetal Kidney	kidney
15	chr15:42788800-42790200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:42788800-42790200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:42788800-42790200	Weak transcription	Lung	lung
18	chr15:42788800-42790200	Weak transcription	Pancreas	Pancrea
19	chr15:42788800-42790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:42788800-42790600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:42788800-42790600	Weak transcription	HMEC	breast
22	chr15:42788800-42790800	Weak transcription	NHDF-Ad	bronchial
23	chr15:42788800-42791400	Weak transcription	NH-A	brain
24	chr15:42788800-42792000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:42788800-42792200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:42788800-42792200	Weak transcription	Right Atrium	heart
27	chr15:42788800-42792400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:42788800-42793000	Weak transcription	Brain Substantia Nigra	brain
29	chr15:42788800-42793600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:42788800-42797000	Weak transcription	HSMMtube	muscle
31	chr15:42788800-42800400	Weak transcription	Fetal Lung	lung
32	chr15:42788800-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:42788800-42805400	Weak transcription	Brain Germinal Matrix	brain
34	chr15:42789000-42790200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:42789000-42790200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:42789000-42790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr15:42789000-42790200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:42789000-42790200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:42789000-42790200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:42789000-42790200	Weak transcription	Fetal Stomach	stomach
41	chr15:42789000-42790200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:42789000-42790400	Enhancers	Right Ventricle	heart
43	chr15:42789000-42790800	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:42789000-42790800	Weak transcription	Osteobl	bone
45	chr15:42789000-42791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:42789000-42791000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr15:42789000-42791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:42789000-42791600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:42789000-42791600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:42789000-42791800	Enhancers	Duodenum Mucosa	Duodenum

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