Variant report

Variant	rs1062707
Chromosome Location	chr15:58000981-58000982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57957919..57960382-chr15:58000140..58002579,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1000697	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.96[ASN][1000 genomes]
rs11638075	0.99[ASN][1000 genomes]
rs16977644	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1808478	0.83[CHB][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap];0.80[YRI][hapmap]
rs2470361	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2733616	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2733617	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.84[LWK][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2733619	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28489309	0.94[ASN][1000 genomes]
rs57986545	0.96[ASN][1000 genomes]
rs7178647	0.94[ASN][1000 genomes]
rs7181586	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs72745574	0.96[ASN][1000 genomes]
rs72745581	0.94[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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
3	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1062707	SUV39H2	trans	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57998200-58001000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:57998200-58001400	Active TSS	Fetal Kidney	kidney
3	chr15:57999600-58001000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:57999600-58001200	Weak transcription	Spleen	Spleen
5	chr15:57999600-58001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:57999800-58001200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:57999800-58001200	Weak transcription	Lung	lung
8	chr15:57999800-58001200	Weak transcription	Pancreas	Pancrea
9	chr15:57999800-58001600	Weak transcription	Placenta	Placenta
10	chr15:57999800-58002000	Weak transcription	Small Intestine	intestine
11	chr15:57999800-58002200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:57999800-58003000	Weak transcription	Gastric	stomach
13	chr15:57999800-58008200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:57999800-58014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:57999800-58022400	Weak transcription	Esophagus	oesophagus
16	chr15:58000000-58001200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:58000000-58001200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:58000000-58001400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:58000000-58002000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr15:58000000-58003000	Weak transcription	Colonic Mucosa	Colon
21	chr15:58000000-58004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:58000000-58008200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:58000200-58001000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:58000200-58001000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:58000200-58001000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr15:58000200-58001000	Enhancers	Fetal Thymus	thymus
27	chr15:58000200-58001200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:58000200-58001200	Weak transcription	Ovary	ovary
29	chr15:58000200-58001400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr15:58000200-58001400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:58000200-58001400	Enhancers	Colon Smooth Muscle	Colon
32	chr15:58000200-58001600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr15:58000200-58001800	Enhancers	Brain Cingulate Gyrus	brain
34	chr15:58000200-58002000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr15:58000200-58002600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr15:58000200-58004600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:58000200-58015000	Weak transcription	Stomach Mucosa	stomach
38	chr15:58000400-58001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:58000400-58001000	Enhancers	Brain Angular Gyrus	brain
40	chr15:58000400-58001200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:58000400-58001200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:58000400-58001400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:58000400-58001400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:58000400-58001400	Weak transcription	Brain Anterior Caudate	brain
45	chr15:58000400-58001400	Enhancers	Fetal Intestine Large	intestine
46	chr15:58000400-58001600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr15:58000400-58001800	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr15:58000400-58004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr15:58000600-58001000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:58000600-58001000	Enhancers	Rectal Smooth Muscle	rectum

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