Variant report

Variant	rs4331926
Chromosome Location	chr5:167740305-167740306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167695818..167698583-chr5:167740233..167742676,2	MCF-7	breast:
2	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
3	chr5:167717383..167719281-chr5:167739478..167741146,2	K562	blood:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12522354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12522956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17832301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2112556	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2337215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34509932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35397127	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59173424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167727600-167742600	Weak transcription	Fetal Brain Female	brain
2	chr5:167729400-167740800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:167729400-167741000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167729400-167741000	Weak transcription	Fetal Lung	lung
5	chr5:167730400-167740800	Weak transcription	HMEC	breast
6	chr5:167730800-167740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:167731000-167741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:167733000-167740800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:167734200-167740800	Weak transcription	NHEK	skin
10	chr5:167734200-167746000	Enhancers	Fetal Intestine Large	intestine
11	chr5:167734400-167746600	Enhancers	Fetal Intestine Small	intestine
12	chr5:167736400-167741600	Enhancers	Liver	Liver
13	chr5:167736600-167740600	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:167736600-167741000	Genic enhancers	A549	lung
15	chr5:167738200-167740800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:167738200-167740800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:167738200-167741000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:167738200-167741600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:167738200-167741600	Weak transcription	Fetal Kidney	kidney
20	chr5:167738200-167742200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:167738200-167747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:167738400-167740800	Weak transcription	Placenta	Placenta
23	chr5:167738400-167740800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:167738400-167741000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:167738400-167741000	Weak transcription	Gastric	stomach
26	chr5:167738400-167741000	Weak transcription	Lung	lung
27	chr5:167738400-167741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:167738400-167741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:167738400-167744400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:167738600-167740800	Weak transcription	Stomach Mucosa	stomach
31	chr5:167738600-167741000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:167738600-167741600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:167738600-167741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:167739200-167741000	Enhancers	Hela-S3	cervix
35	chr5:167739400-167741600	Enhancers	Osteobl	bone
36	chr5:167739400-167741800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:167739400-167742800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:167739400-167745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:167739600-167741000	Weak transcription	NHDF-Ad	bronchial
40	chr5:167739600-167741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:167739600-167743600	Enhancers	HSMM	muscle
42	chr5:167739600-167745000	Enhancers	Pancreas	Pancrea
43	chr5:167739800-167741000	Weak transcription	Brain Anterior Caudate	brain
44	chr5:167739800-167742000	Weak transcription	HSMMtube	muscle
45	chr5:167739800-167745200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:167740000-167741600	Enhancers	HepG2	liver
47	chr5:167740000-167742800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:167740200-167740400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:167740200-167740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:167740200-167740800	Weak transcription	Esophagus	oesophagus

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