Variant report

Variant	rs2112556
Chromosome Location	chr5:167738356-167738357
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	chr5:167696133..167697030-chr5:167737887..167738622,2	K562	blood:
2	chr21:35311075..35312996-chr5:167737118..167739327,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12522354	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12522956	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13183480	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17775705	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17832301	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1966488	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337215	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509932	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35397127	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331926	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59173424	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs749235	0.90[CHB][hapmap]
rs764221	0.82[JPT][hapmap]

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:49 , 50 per page) page: 1

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	chr5:167731000-167739200	Weak transcription	Hela-S3	cervix
8	chr5:167731000-167741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:167733000-167740800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:167733200-167738400	Enhancers	Placenta	Placenta
11	chr5:167734000-167738600	Enhancers	Pancreas	Pancrea
12	chr5:167734200-167740800	Weak transcription	NHEK	skin
13	chr5:167734200-167746000	Enhancers	Fetal Intestine Large	intestine
14	chr5:167734400-167746600	Enhancers	Fetal Intestine Small	intestine
15	chr5:167734800-167738400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:167736200-167739400	Weak transcription	Small Intestine	intestine
17	chr5:167736400-167738400	Enhancers	HepG2	liver
18	chr5:167736400-167740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:167736400-167741600	Enhancers	Liver	Liver
20	chr5:167736600-167740600	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:167736600-167741000	Genic enhancers	A549	lung
22	chr5:167736800-167739600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:167737200-167739400	Weak transcription	NHDF-Ad	bronchial
24	chr5:167737600-167738400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:167737600-167738600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:167737600-167738600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:167737600-167738800	Enhancers	Esophagus	oesophagus
28	chr5:167737800-167738400	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:167737800-167738400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:167737800-167738600	Enhancers	Stomach Mucosa	stomach
31	chr5:167738000-167738400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:167738000-167738400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:167738000-167738400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:167738000-167738400	Enhancers	Colonic Mucosa	Colon
35	chr5:167738000-167738400	Enhancers	Gastric	stomach
36	chr5:167738000-167738400	Enhancers	Lung	lung
37	chr5:167738000-167738400	Enhancers	NH-A	brain
38	chr5:167738000-167738600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:167738000-167738600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:167738200-167738400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:167738200-167738600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:167738200-167739400	Weak transcription	Brain Anterior Caudate	brain
43	chr5:167738200-167740800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:167738200-167740800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:167738200-167741000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:167738200-167741600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:167738200-167741600	Weak transcription	Fetal Kidney	kidney
48	chr5:167738200-167742200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:167738200-167747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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