Variant report

Variant	rs17632741
Chromosome Location	chr5:167743909-167743910
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:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10051069	0.89[EUR][1000 genomes]
rs10475874	0.90[EUR][1000 genomes]
rs11954736	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12108717	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12514628	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12517127	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12519918	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12522231	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17051843	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]
rs17070081	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17632785	1.00[JPT][hapmap]
rs2337213	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2337214	0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4449559	0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs72822615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72822616	0.83[EUR][1000 genomes]
rs72822619	0.83[EUR][1000 genomes]
rs72822620	0.83[EUR][1000 genomes]
rs72822623	0.83[EUR][1000 genomes]
rs72822626	0.82[EUR][1000 genomes]
rs72822628	0.82[EUR][1000 genomes]
rs72822629	0.82[EUR][1000 genomes]
rs72828862	0.82[EUR][1000 genomes]
rs72828867	0.82[EUR][1000 genomes]
rs72838320	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72838323	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72838333	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72838335	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs728668	1.00[ASW][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[EUR][1000 genomes]
rs7718390	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7721532	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[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

No data

Chromatin state (count:73 , 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	chr5:167738400-167744400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:167739400-167745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167739600-167745000	Enhancers	Pancreas	Pancrea
7	chr5:167739800-167745200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:167740200-167744400	Weak transcription	Right Atrium	heart
9	chr5:167740200-167744800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:167740200-167745600	Enhancers	NH-A	brain
11	chr5:167740800-167744600	Enhancers	Esophagus	oesophagus
12	chr5:167740800-167744800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:167740800-167744800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:167740800-167745200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:167740800-167745200	Enhancers	Stomach Mucosa	stomach
16	chr5:167740800-167745200	Enhancers	HMEC	breast
17	chr5:167740800-167745600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:167740800-167745600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:167740800-167747000	Enhancers	Placenta	Placenta
20	chr5:167741000-167744600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:167741000-167744600	Enhancers	Lung	lung
22	chr5:167741000-167745000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:167741000-167745000	Enhancers	NHDF-Ad	bronchial
24	chr5:167741000-167745200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:167741000-167745200	Enhancers	NHLF	lung
26	chr5:167741600-167744600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:167741600-167744600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:167741600-167744800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:167741600-167744800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:167741600-167745000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:167741600-167745000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr5:167741600-167746000	Enhancers	Fetal Lung	lung
33	chr5:167741800-167744000	Enhancers	Brain Anterior Caudate	brain
34	chr5:167741800-167744600	Enhancers	Fetal Brain Male	brain
35	chr5:167741800-167745200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:167741800-167745200	Enhancers	Fetal Heart	heart
37	chr5:167741800-167751200	Weak transcription	Gastric	stomach
38	chr5:167742000-167744800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:167742000-167745000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:167742000-167745000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:167742000-167745600	Enhancers	Osteobl	bone
42	chr5:167742200-167744000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:167742200-167744000	Enhancers	GM12878-XiMat	blood
44	chr5:167742200-167744200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:167742400-167744200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:167742600-167744200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:167742600-167744200	Weak transcription	HSMMtube	muscle
48	chr5:167742600-167744600	Weak transcription	Brain Substantia Nigra	brain
49	chr5:167742600-167745000	Enhancers	Duodenum Mucosa	Duodenum
50	chr5:167742600-167745200	Enhancers	Brain Germinal Matrix	brain

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