Variant report

Variant	rs73244473
Chromosome Location	chr4:48043127-48043128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4695329	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4695330	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73244472	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73244475	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48043600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
3	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
4	chr4:48024600-48043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:48026800-48045400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:48032800-48045000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:48033000-48045000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:48034200-48049600	Weak transcription	Pancreas	Pancrea
9	chr4:48036400-48046400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:48038000-48044600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:48038000-48044800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:48038000-48047800	Weak transcription	NHEK	skin
13	chr4:48038200-48044400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:48038200-48045200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:48038400-48044600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:48038600-48043600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:48038600-48045200	Weak transcription	Fetal Heart	heart
18	chr4:48038600-48053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:48039000-48045400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:48039400-48043800	Enhancers	GM12878-XiMat	blood
21	chr4:48039400-48044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:48039600-48044800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:48040400-48044400	Weak transcription	Fetal Intestine Large	intestine
24	chr4:48041000-48044000	Weak transcription	Primary B cells from cord blood	blood
25	chr4:48041000-48044600	Weak transcription	Fetal Intestine Small	intestine
26	chr4:48041200-48044400	Weak transcription	Liver	Liver
27	chr4:48041600-48053000	Weak transcription	HMEC	breast
28	chr4:48042200-48044800	Enhancers	HepG2	liver
29	chr4:48043000-48045200	Weak transcription	Stomach Mucosa	stomach

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