Variant report

Variant	rs6494692
Chromosome Location	chr15:33094597-33094598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33089336..33091102-chr15:33094097..33095709,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1258749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1258804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1258805	0.86[AFR][1000 genomes]
rs1258806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2339157	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2339159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv832961	chr15:33021177-33134988	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv903977	chr15:33040782-33117302	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1482	chr15:33083166-33113644	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6494692	APBA2	cis	cerebellum	SCAN
rs6494692	FMN1	cis	lymphoblastoid	seeQTL
rs6494692	GREM1	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33060600-33097600	Weak transcription	Thymus	Thymus
2	chr15:33061200-33141000	Weak transcription	Placenta	Placenta
3	chr15:33062600-33111200	Weak transcription	Gastric	stomach
4	chr15:33065800-33098600	Weak transcription	Colonic Mucosa	Colon
5	chr15:33075000-33096400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:33080800-33094800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr15:33082600-33096000	Weak transcription	Pancreas	Pancrea
8	chr15:33083600-33097400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:33086400-33096000	Weak transcription	Fetal Thymus	thymus
10	chr15:33087400-33095600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:33087600-33096000	Weak transcription	Brain Angular Gyrus	brain
12	chr15:33087800-33095200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:33088200-33095600	Weak transcription	A549	lung
14	chr15:33088800-33107800	Weak transcription	Stomach Mucosa	stomach
15	chr15:33089200-33094800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr15:33090200-33095800	Weak transcription	Lung	lung
17	chr15:33090800-33095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:33091000-33095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:33091000-33095400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:33091000-33096600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:33091200-33095000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:33091400-33095600	Weak transcription	Aorta	Aorta
23	chr15:33093200-33095200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:33093200-33095400	Enhancers	Osteobl	bone
25	chr15:33093200-33095600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:33093400-33095600	Enhancers	Primary hematopoietic stem cells	blood
27	chr15:33093400-33095800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:33094000-33095000	Enhancers	NHLF	lung
29	chr15:33094000-33095200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:33094000-33095200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:33094000-33095400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr15:33094200-33095000	Enhancers	HSMMtube	muscle
33	chr15:33094200-33095200	Enhancers	HSMM	muscle
34	chr15:33094200-33095400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:33094200-33095400	Enhancers	NH-A	brain
36	chr15:33094400-33094800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:33094400-33095000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:33094400-33095000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:33094400-33095000	Enhancers	Fetal Stomach	stomach
40	chr15:33094400-33095200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:33094400-33095200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:33094400-33095400	Enhancers	NHDF-Ad	bronchial

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