Variant report

Variant	rs16973320
Chromosome Location	chr15:42791050-42791051
allele	A/C/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: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10518763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10518766	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060291	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1060293	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851410	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11070376	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11636577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12324717	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973053	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973059	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973091	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973096	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973107	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973109	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973132	1.00[CHB][hapmap]
rs16973137	1.00[CHB][hapmap]
rs16973148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973153	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973155	1.00[CHB][hapmap]
rs16973171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973175	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17695121	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17709180	1.00[ASN][1000 genomes]
rs17709377	1.00[ASN][1000 genomes]
rs17766532	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2412704	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28364347	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2899051	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2899059	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs34359922	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34643746	1.00[ASN][1000 genomes]
rs34792942	1.00[ASN][1000 genomes]
rs3986280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4344713	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4923948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4924684	1.00[ASN][1000 genomes]
rs4924687	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58641431	0.81[AFR][1000 genomes];0.80[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	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60380503	1.00[ASN][1000 genomes]
rs60584955	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]
rs7164437	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7164874	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7165023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7178901	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7180483	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73402783	1.00[ASN][1000 genomes]
rs73402785	1.00[ASN][1000 genomes]
rs73404714	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404717	0.91[EUR][1000 genomes]
rs73404723	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404730	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404763	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406518	1.00[ASN][1000 genomes]
rs73406534	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[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8038153	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42788400-42808000	Weak transcription	Esophagus	oesophagus
2	chr15:42788600-42791400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42788600-42792400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr15:42788600-42798400	Weak transcription	Ovary	ovary
5	chr15:42788600-42805600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:42788600-42806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:42788600-42807200	Weak transcription	Fetal Kidney	kidney
8	chr15:42788800-42791400	Weak transcription	NH-A	brain
9	chr15:42788800-42792000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:42788800-42792200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:42788800-42792200	Weak transcription	Right Atrium	heart
12	chr15:42788800-42792400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:42788800-42793000	Weak transcription	Brain Substantia Nigra	brain
14	chr15:42788800-42793600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:42788800-42797000	Weak transcription	HSMMtube	muscle
16	chr15:42788800-42800400	Weak transcription	Fetal Lung	lung
17	chr15:42788800-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:42788800-42805400	Weak transcription	Brain Germinal Matrix	brain
19	chr15:42789000-42791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:42789000-42791600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:42789000-42791600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:42789000-42791800	Enhancers	Duodenum Mucosa	Duodenum
23	chr15:42789000-42791800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr15:42789000-42792000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:42789000-42792000	Weak transcription	NHLF	lung
26	chr15:42789000-42792200	Weak transcription	Fetal Heart	heart
27	chr15:42789000-42792400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:42789000-42793000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:42789000-42794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:42789000-42797000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:42789000-42797000	Weak transcription	Brain Angular Gyrus	brain
32	chr15:42789000-42803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:42789000-42805400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:42789000-42806400	Weak transcription	Thymus	Thymus
35	chr15:42789200-42791200	Weak transcription	Colonic Mucosa	Colon
36	chr15:42789200-42791800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:42789200-42791800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:42789200-42792000	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:42789200-42792600	Enhancers	Fetal Intestine Large	intestine
40	chr15:42789200-42793000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr15:42789200-42793000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:42789200-42793200	Weak transcription	Brain Anterior Caudate	brain
43	chr15:42789200-42794000	Enhancers	Placenta	Placenta
44	chr15:42789200-42796800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:42789200-42798400	Weak transcription	Primary T cells from cord blood	blood
46	chr15:42789200-42800600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:42789200-42802400	Weak transcription	Fetal Brain Female	brain
48	chr15:42789200-42804400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:42789200-42805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:42789200-42806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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