Variant report

Variant	rs1345116
Chromosome Location	chr15:59330913-59330914
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	chr15:59322379..59325105-chr15:59330082..59333017,3	K562	blood:

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10431791	0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs10431792	0.86[ASN][1000 genomes]
rs10518996	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1074701	0.83[ASN][1000 genomes]
rs10851643	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11071405	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11635820	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11852461	0.91[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11855536	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12050865	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12101733	0.95[ASN][1000 genomes]
rs12437587	0.86[ASN][1000 genomes]
rs12438111	0.91[CHB][hapmap];0.87[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12438128	0.85[ASN][1000 genomes]
rs12438208	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs12440692	0.82[ASN][1000 genomes]
rs12441973	0.80[ASN][1000 genomes]
rs12900369	0.82[ASN][1000 genomes]
rs12902628	0.82[ASN][1000 genomes]
rs12906212	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs12907187	0.82[ASN][1000 genomes]
rs12913177	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1374155	0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1374156	0.92[ASN][1000 genomes]
rs1446237	0.87[CHB][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1446238	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1446239	1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs1665049	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1665050	0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs1665051	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs1693532	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs16940998	0.83[AMR][1000 genomes]
rs17236369	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs17236383	0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17302142	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17302163	0.86[ASN][1000 genomes]
rs1867757	0.81[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1968606	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1968607	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1975534	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2121236	0.81[ASN][1000 genomes]
rs2121237	0.82[ASN][1000 genomes]
rs2414618	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28391430	0.82[ASN][1000 genomes]
rs28514475	0.82[ASN][1000 genomes]
rs28610479	0.82[ASN][1000 genomes]
rs34338282	0.82[ASN][1000 genomes]
rs34718679	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34977427	0.86[ASN][1000 genomes]
rs35066133	0.86[ASN][1000 genomes]
rs35204615	0.82[ASN][1000 genomes]
rs35210199	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35460138	0.81[ASN][1000 genomes]
rs35555888	0.82[ASN][1000 genomes]
rs35658945	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4218	0.91[CHB][hapmap]
rs4531679	0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4774320	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4774321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4775110	0.90[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4775111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4775115	0.80[AMR][1000 genomes]
rs57557135	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58335303	0.89[ASN][1000 genomes]
rs58417366	0.92[ASN][1000 genomes]
rs59540276	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61022867	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62002516	0.91[ASN][1000 genomes]
rs6494054	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6494064	0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs6494065	0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs6494069	0.82[ASN][1000 genomes]
rs7165028	0.89[ASN][1000 genomes]
rs7168102	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7173135	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7175215	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7175246	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7175490	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs7176281	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7176576	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7178935	0.81[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs73418863	0.81[ASN][1000 genomes]
rs73418864	0.82[ASN][1000 genomes]
rs8025246	0.91[ASN][1000 genomes]
rs8026611	0.91[ASN][1000 genomes]
rs8027536	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8028752	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs8028764	0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs8029336	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8030246	0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8030323	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8031390	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8037569	0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs8040456	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs8041221	1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs8041704	0.92[ASN][1000 genomes]
rs8042516	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs8042896	0.82[ASN][1000 genomes]
rs9302206	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs9788719	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv510663	chr15:59310676-59370041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
3	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
4	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
7	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:59295600-59335400	Weak transcription	Lung	lung
10	chr15:59301200-59335400	Weak transcription	HUVEC	blood vessel
11	chr15:59305400-59354400	Weak transcription	Gastric	stomach
12	chr15:59306000-59353400	Weak transcription	Fetal Heart	heart
13	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
14	chr15:59309200-59336600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:59317600-59331400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:59319600-59331800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:59321400-59336800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:59321600-59336200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:59323000-59331200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:59323000-59331200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:59323000-59331800	Strong transcription	Placenta	Placenta
23	chr15:59323200-59331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
25	chr15:59323800-59335400	Weak transcription	Psoas Muscle	Psoas
26	chr15:59323800-59343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:59323800-59347600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:59323800-59348400	Weak transcription	Brain Anterior Caudate	brain
29	chr15:59324000-59331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:59324000-59335600	Weak transcription	Brain Angular Gyrus	brain
31	chr15:59324000-59344600	Weak transcription	HMEC	breast
32	chr15:59324000-59345200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:59324000-59347800	Weak transcription	NHLF	lung
34	chr15:59324000-59350600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:59324000-59350600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:59324000-59351000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:59324600-59331800	ZNF genes & repeats	GM12878-XiMat	blood
38	chr15:59325000-59331600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:59325000-59335600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:59325000-59354800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:59325200-59344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:59325200-59345000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:59325200-59345800	Weak transcription	NHDF-Ad	bronchial
44	chr15:59325400-59344800	Weak transcription	NH-A	brain
45	chr15:59325400-59347800	Weak transcription	HSMMtube	muscle
46	chr15:59325400-59350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:59325400-59352000	Weak transcription	Fetal Lung	lung
48	chr15:59325600-59333600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:59325600-59338600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:59325800-59331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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