Variant report

Variant	rs6495075
Chromosome Location	chr15:73981005-73981006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73970534..73973218-chr15:73980839..73983743,2	K562	blood:
2	chr15:73935857..73937490-chr15:73980452..73983279,2	MCF-7	breast:
3	chr15:73921937..73932817-chr15:73973872..73983627,19	MCF-7	breast:
4	chr15:73975048..73981150-chr15:73987719..73994346,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156642	Chromatin interaction
ENSG00000103855	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11072428	0.80[JPT][hapmap];0.83[MEX][hapmap]
rs11072430	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11634399	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11637315	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12185108	0.80[JPT][hapmap]
rs12591473	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12594175	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594595	0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1481089	0.80[JPT][hapmap]
rs16958079	0.80[JPT][hapmap]
rs4075802	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56262972	0.88[ASN][1000 genomes]
rs56413315	0.88[ASN][1000 genomes]
rs57771618	0.83[EUR][1000 genomes]
rs6495069	0.80[JPT][hapmap]
rs6495073	0.81[ASN][1000 genomes]
rs6495076	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7176654	0.87[GIH][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes]
rs7497012	0.83[EUR][1000 genomes]
rs8028089	0.80[JPT][hapmap]
rs8036954	0.89[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037540	chr15:73712637-73982420	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6495075	PML	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73977800-73981800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:73977800-73982400	Enhancers	Lung	lung
3	chr15:73978000-73981400	Enhancers	Spleen	Spleen
4	chr15:73978200-73982200	Enhancers	Liver	Liver
5	chr15:73978200-73982200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr15:73978200-73982400	Enhancers	Ovary	ovary
7	chr15:73978400-73981600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:73978400-73981600	Enhancers	Right Ventricle	heart
9	chr15:73978400-73982600	Enhancers	HUVEC	blood vessel
10	chr15:73978600-73981400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:73978600-73981600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:73978600-73982200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:73978600-73982200	Enhancers	Colon Smooth Muscle	Colon
14	chr15:73978600-73982200	Enhancers	Placenta	Placenta
15	chr15:73978600-73982400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:73978600-73983600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:73978800-73981200	Weak transcription	Stomach Mucosa	stomach
18	chr15:73978800-73981600	Enhancers	Fetal Brain Male	brain
19	chr15:73978800-73981600	Enhancers	Left Ventricle	heart
20	chr15:73978800-73982000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:73978800-73983600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:73978800-73983600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:73978800-73983800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:73978800-73983800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:73978800-73989000	Weak transcription	Fetal Kidney	kidney
26	chr15:73978800-74000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:73979000-73981400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr15:73979000-73981600	Enhancers	Right Atrium	heart
29	chr15:73979000-73981800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr15:73979000-73982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:73979000-73982000	Enhancers	Fetal Muscle Leg	muscle
32	chr15:73979000-73982000	Enhancers	HepG2	liver
33	chr15:73979000-73982400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:73979000-73982800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:73979000-73985400	Enhancers	Adipose Nuclei	Adipose
36	chr15:73979200-73981800	Enhancers	NHLF	lung
37	chr15:73979200-73982200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:73979200-73982400	Enhancers	HSMMtube	muscle
39	chr15:73979200-73983400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr15:73979200-73983800	Weak transcription	Colonic Mucosa	Colon
41	chr15:73979200-73985000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:73979400-73981800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:73979400-73981800	Enhancers	Brain Germinal Matrix	brain
44	chr15:73979400-73983400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:73979400-73983800	Enhancers	NHEK	skin
46	chr15:73979400-73986200	Weak transcription	Psoas Muscle	Psoas
47	chr15:73979400-73986800	Weak transcription	Aorta	Aorta
48	chr15:73979400-73989000	Weak transcription	Fetal Intestine Large	intestine
49	chr15:73979400-73996400	Weak transcription	A549	lung
50	chr15:73979600-73981800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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