Variant report

Variant	rs794786
Chromosome Location	chr6:15283550-15283551
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15264389..15266521-chr6:15283312..15285847,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2282823	0.82[JPT][hapmap]
rs2299055	0.82[JPT][hapmap]
rs3915734	0.88[CHB][hapmap]
rs707828	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs707829	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs707830	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs707831	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs707835	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs707836	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs707839	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794775	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs794776	0.82[JPT][hapmap]
rs794777	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794778	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794783	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794785	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794792	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794795	0.89[CHB][hapmap];0.82[JPT][hapmap]

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	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv601006	chr6:15275305-15300590	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs794786	PDGFD	trans	brain	seeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15261000-15283800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:15269200-15290000	Weak transcription	NHLF	lung
3	chr6:15270000-15285400	Weak transcription	Thymus	Thymus
4	chr6:15270200-15288800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:15275400-15286000	Weak transcription	HSMM	muscle
6	chr6:15275400-15287800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:15275600-15285000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:15276800-15287800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:15276800-15293200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:15277200-15285200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:15277200-15289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:15277200-15294000	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:15279800-15284800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:15280200-15284400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:15280200-15286000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:15280200-15293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:15280400-15284200	Weak transcription	A549	lung
18	chr6:15280400-15284600	Weak transcription	NH-A	brain
19	chr6:15280400-15287200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:15280400-15288800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:15280800-15285000	Weak transcription	Brain Anterior Caudate	brain
22	chr6:15280800-15285000	Weak transcription	NHDF-Ad	bronchial
23	chr6:15280800-15287600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:15281000-15287800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:15281200-15284400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:15281200-15285000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:15281200-15285000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:15281200-15289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:15281400-15285000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:15281400-15285000	Weak transcription	Left Ventricle	heart
31	chr6:15281400-15286000	Weak transcription	Brain Angular Gyrus	brain
32	chr6:15281400-15288200	Weak transcription	Brain Substantia Nigra	brain
33	chr6:15281400-15288200	Weak transcription	Right Ventricle	heart
34	chr6:15281400-15289000	Weak transcription	Lung	lung
35	chr6:15281400-15293400	Weak transcription	Esophagus	oesophagus
36	chr6:15281400-15296400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:15281600-15284400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:15281600-15287600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:15281600-15294000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:15281800-15284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:15281800-15284200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:15281800-15284200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:15281800-15285000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:15281800-15285000	Weak transcription	Adipose Nuclei	Adipose
45	chr6:15281800-15285000	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:15281800-15293400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:15281800-15300200	Weak transcription	Fetal Stomach	stomach
48	chr6:15282000-15283800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:15282000-15284200	Weak transcription	Placenta	Placenta
50	chr6:15282000-15284400	Weak transcription	Monocytes-CD14+_RO01746	blood

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