Variant report

Variant	rs8030307
Chromosome Location	chr15:52675768-52675769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10518683	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1104800	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1108808	0.96[ASN][1000 genomes]
rs12101973	1.00[ASN][1000 genomes]
rs12913979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329278	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13329402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13329500	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1669870	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1669872	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16964910	0.96[ASN][1000 genomes]
rs16964915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16964919	0.96[ASN][1000 genomes]
rs16964921	0.96[ASN][1000 genomes]
rs16964928	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1724577	1.00[EUR][1000 genomes]
rs1724618	0.83[AMR][1000 genomes]
rs2242059	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2305419	1.00[CHB][hapmap]
rs2305420	1.00[CHB][hapmap]
rs2414137	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2414138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2414143	1.00[CHB][hapmap]
rs2414145	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2600903	0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2600904	0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693458	0.96[AFR][1000 genomes]
rs28367336	0.96[ASN][1000 genomes]
rs28374631	0.96[ASN][1000 genomes]
rs28409636	1.00[ASN][1000 genomes]
rs28409760	1.00[ASN][1000 genomes]
rs28415472	1.00[EUR][1000 genomes]
rs28475475	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28485251	1.00[EUR][1000 genomes]
rs28496242	0.96[ASN][1000 genomes]
rs28503750	1.00[ASN][1000 genomes]
rs28508266	0.96[ASN][1000 genomes]
rs28532168	1.00[ASN][1000 genomes]
rs28556657	1.00[ASN][1000 genomes]
rs28613360	1.00[EUR][1000 genomes]
rs28633243	0.96[ASN][1000 genomes]
rs28653534	0.96[ASN][1000 genomes]
rs28693941	0.96[ASN][1000 genomes]
rs28756182	1.00[ASN][1000 genomes]
rs3751617	1.00[CHB][hapmap]
rs3764225	1.00[CHB][hapmap]
rs3764230	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3794562	1.00[CHB][hapmap]
rs4624108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4774620	1.00[JPT][hapmap]
rs4774621	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776042	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163242	1.00[ASN][1000 genomes]
rs7163569	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163778	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164164	0.92[ASN][1000 genomes]
rs7164872	1.00[ASN][1000 genomes]
rs7167437	0.88[ASN][1000 genomes]
rs7168251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7171999	1.00[ASN][1000 genomes]
rs73408415	1.00[ASN][1000 genomes]
rs73408465	1.00[ASN][1000 genomes]
rs73408469	0.96[ASN][1000 genomes]
rs73408478	0.96[ASN][1000 genomes]
rs73410713	1.00[ASN][1000 genomes]
rs8027777	0.96[ASN][1000 genomes]
rs8035199	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8040369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8040558	0.88[ASN][1000 genomes]
rs8041819	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs876549	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9744852	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9920739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1054899	chr15:52662365-52803756	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52609800-52677600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:52611800-52675800	Weak transcription	Gastric	stomach
3	chr15:52630600-52684800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:52631600-52679200	Weak transcription	Fetal Intestine Small	intestine
5	chr15:52644200-52680800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:52644600-52730200	Weak transcription	Esophagus	oesophagus
7	chr15:52647400-52690600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:52649000-52687200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:52649600-52677600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:52649800-52676400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:52653600-52677400	Weak transcription	Colonic Mucosa	Colon
12	chr15:52658400-52687200	Weak transcription	Small Intestine	intestine
13	chr15:52659000-52676600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:52659000-52676600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:52659200-52676400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr15:52659200-52676600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:52659200-52676800	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr15:52659200-52677000	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:52659400-52676600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:52660400-52676800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:52661000-52676600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:52661200-52676600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:52662600-52683600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:52662600-52685000	Weak transcription	Psoas Muscle	Psoas
25	chr15:52663200-52711400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:52663400-52708600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr15:52665200-52720600	Weak transcription	Pancreas	Pancrea
28	chr15:52665600-52677200	Weak transcription	Fetal Intestine Large	intestine
29	chr15:52667000-52679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:52667000-52682000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:52667000-52684800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:52667000-52686000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:52667000-52686600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:52667400-52675800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:52667400-52676000	Weak transcription	Fetal Thymus	thymus
36	chr15:52667600-52676600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:52667600-52676800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:52667600-52677000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:52667600-52684400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:52668000-52683400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr15:52668800-52675800	Weak transcription	Right Ventricle	heart
42	chr15:52668800-52679400	Weak transcription	NH-A	brain
43	chr15:52668800-52683800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:52668800-52730400	Weak transcription	Aorta	Aorta
45	chr15:52669200-52675800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:52669200-52683400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:52669400-52693400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr15:52670800-52676400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:52670800-52676400	Strong transcription	Adipose Nuclei	Adipose
50	chr15:52670800-52676400	Strong transcription	Brain Germinal Matrix	brain

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