Variant report

Variant	rs4613744
Chromosome Location	chr5:95451494-95451495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95445238..95446778-chr5:95449413..95451842,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1961260	0.93[EUR][1000 genomes]
rs60218730	1.00[AMR][1000 genomes]
rs6879646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891871	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
7	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95430600-95454400	Weak transcription	Aorta	Aorta
2	chr5:95445400-95455800	Weak transcription	Gastric	stomach
3	chr5:95447000-95451600	Enhancers	HMEC	breast
4	chr5:95447200-95454000	Weak transcription	Pancreas	Pancrea
5	chr5:95448000-95453600	Enhancers	Liver	Liver
6	chr5:95448600-95453000	Enhancers	HepG2	liver
7	chr5:95449200-95454600	Enhancers	Fetal Intestine Small	intestine
8	chr5:95449600-95452200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:95449600-95452600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:95450000-95451600	Enhancers	NHEK	skin
11	chr5:95450200-95453000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:95450200-95453400	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:95450600-95452200	Enhancers	Dnd41	blood
14	chr5:95450600-95452600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:95450600-95452800	Enhancers	Fetal Intestine Large	intestine
16	chr5:95450600-95453400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:95450600-95453800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:95450600-95453800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:95450600-95454000	Weak transcription	HSMMtube	muscle
20	chr5:95450800-95451600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:95450800-95453800	Weak transcription	NHDF-Ad	bronchial
22	chr5:95450800-95454200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:95451000-95452000	Enhancers	HUVEC	blood vessel
24	chr5:95451000-95454000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:95451000-95454400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:95451200-95461000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:95451400-95452600	Weak transcription	Stomach Mucosa	stomach
28	chr5:95451400-95453600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:95451400-95453600	Weak transcription	A549	lung
30	chr5:95451400-95454000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:95451400-95454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:95451400-95460800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:95451400-95461200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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