Variant report

Variant	rs17051843
Chromosome Location	chr5:167744650-167744651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
2	chr5:167721263..167723335-chr5:167744275..167746095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10051069	0.81[EUR][1000 genomes]
rs10475874	0.82[EUR][1000 genomes]
rs11954736	1.00[JPT][hapmap]
rs12108717	0.81[EUR][1000 genomes]
rs12514628	0.89[EUR][1000 genomes]
rs12517127	0.83[EUR][1000 genomes]
rs12519918	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12522231	0.83[EUR][1000 genomes]
rs17070081	1.00[JPT][hapmap]
rs17632741	1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17632785	1.00[JPT][hapmap]
rs2337213	1.00[JPT][hapmap]
rs2337214	0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4449559	0.97[GIH][hapmap];1.00[JPT][hapmap]
rs72822615	0.89[EUR][1000 genomes]
rs72822616	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72822618	0.80[ASN][1000 genomes]
rs72822619	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72822620	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72822623	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72838320	0.81[EUR][1000 genomes]
rs72838323	0.82[EUR][1000 genomes]
rs72838333	0.81[EUR][1000 genomes]
rs72838335	0.83[EUR][1000 genomes]
rs728668	1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7718390	0.81[EUR][1000 genomes]
rs7721532	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17051843	WWC1	cis	substantia nigra	BrainEAC

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167734200-167746000	Enhancers	Fetal Intestine Large	intestine
2	chr5:167734400-167746600	Enhancers	Fetal Intestine Small	intestine
3	chr5:167738200-167747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:167739400-167745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:167739600-167745000	Enhancers	Pancreas	Pancrea
6	chr5:167739800-167745200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:167740200-167744800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:167740200-167745600	Enhancers	NH-A	brain
9	chr5:167740800-167744800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:167740800-167744800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:167740800-167745200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:167740800-167745200	Enhancers	Stomach Mucosa	stomach
13	chr5:167740800-167745200	Enhancers	HMEC	breast
14	chr5:167740800-167745600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:167740800-167745600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:167740800-167747000	Enhancers	Placenta	Placenta
17	chr5:167741000-167745000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:167741000-167745000	Enhancers	NHDF-Ad	bronchial
19	chr5:167741000-167745200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:167741000-167745200	Enhancers	NHLF	lung
21	chr5:167741600-167744800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:167741600-167744800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:167741600-167745000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:167741600-167745000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:167741600-167746000	Enhancers	Fetal Lung	lung
26	chr5:167741800-167745200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:167741800-167745200	Enhancers	Fetal Heart	heart
28	chr5:167741800-167751200	Weak transcription	Gastric	stomach
29	chr5:167742000-167744800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:167742000-167745000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:167742000-167745000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:167742000-167745600	Enhancers	Osteobl	bone
33	chr5:167742600-167745000	Enhancers	Duodenum Mucosa	Duodenum
34	chr5:167742600-167745200	Enhancers	Brain Germinal Matrix	brain
35	chr5:167742600-167747600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:167742800-167745000	Enhancers	NHEK	skin
37	chr5:167742800-167754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:167743400-167745200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:167743400-167745200	Flanking Active TSS	Hela-S3	cervix
40	chr5:167743800-167744800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr5:167743800-167745200	Enhancers	Liver	Liver
42	chr5:167743800-167745400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:167743800-167745400	Flanking Active TSS	A549	lung
44	chr5:167743800-167745600	Enhancers	HepG2	liver
45	chr5:167743800-167746200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:167743800-167747600	Weak transcription	Fetal Kidney	kidney
47	chr5:167744200-167744800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:167744200-167745000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:167744200-167745200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:167744200-167745200	Enhancers	HSMM	muscle

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