Variant report

Variant	rs73384971
Chromosome Location	chr5:167127503-167127504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10065273	0.90[ASN][1000 genomes]
rs2337019	0.90[ASN][1000 genomes]
rs67298145	0.90[ASN][1000 genomes]
rs73386406	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73386410	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73386413	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs977141	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv5115	chr5:167101911-167147020	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167123400-167128800	Enhancers	HSMM	muscle
2	chr5:167124200-167129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:167124800-167128600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:167125000-167129400	Enhancers	Hela-S3	cervix
5	chr5:167125000-167129400	Enhancers	HMEC	breast
6	chr5:167125000-167129400	Enhancers	NHEK	skin
7	chr5:167125200-167127600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:167125200-167128400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:167125200-167128400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:167125200-167128600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:167125200-167128600	Enhancers	NHDF-Ad	bronchial
12	chr5:167125200-167129200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:167125200-167129400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:167125200-167129400	Enhancers	NH-A	brain
15	chr5:167125400-167127800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:167125400-167127800	Enhancers	NHLF	lung
17	chr5:167125400-167129400	Enhancers	Osteobl	bone
18	chr5:167126000-167127600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:167126000-167127600	Enhancers	Fetal Heart	heart
20	chr5:167126000-167128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:167126200-167127600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:167126200-167128800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:167126200-167128800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:167126200-167128800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:167126600-167127600	Enhancers	Esophagus	oesophagus
26	chr5:167126600-167129400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:167126600-167130200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:167126800-167131600	Weak transcription	Fetal Lung	lung
29	chr5:167127000-167127600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:167127000-167127600	Flanking Active TSS	A549	lung
31	chr5:167127000-167127800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:167127000-167128200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:167127000-167128800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:167127000-167129000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:167127000-167129200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:167127000-167129200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:167127200-167127600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:167127200-167127800	Enhancers	HSMMtube	muscle
39	chr5:167127200-167129400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:167127200-167129400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr5:167127200-167132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:167127400-167127600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:167127400-167127600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:167127400-167127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:167127400-167127800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:167127400-167129000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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