Variant report

Variant	rs4472255
Chromosome Location	chr5:147825617-147825618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10041283	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10042369	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10043775	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10044061	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10051223	0.88[EUR][1000 genomes]
rs10055430	0.81[EUR][1000 genomes]
rs10056586	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10060623	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10068216	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10072051	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10077690	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10079420	0.84[EUR][1000 genomes]
rs10477376	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168046	0.84[EUR][1000 genomes]
rs11168047	0.84[EUR][1000 genomes]
rs1128450	0.87[EUR][1000 genomes]
rs12513547	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12717973	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12717974	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13174567	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13354454	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17108251	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17777066	0.86[EUR][1000 genomes]
rs1971431	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984789	0.88[EUR][1000 genomes]
rs2037997	0.81[EUR][1000 genomes]
rs28617172	0.86[EUR][1000 genomes]
rs34269182	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34685718	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36028618	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3734120	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734121	0.88[EUR][1000 genomes]
rs4274967	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349707	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4574533	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4574534	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639212	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60625004	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6861078	0.86[EUR][1000 genomes]
rs6884076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700502	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713927	0.87[EUR][1000 genomes]
rs7727161	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7727320	0.87[EUR][1000 genomes]
rs7728004	0.81[EUR][1000 genomes]
rs7733401	0.87[EUR][1000 genomes]
rs7736019	0.81[EUR][1000 genomes]
rs9325095	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325097	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9325098	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147797000-147832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:147797600-147826400	Weak transcription	Stomach Mucosa	stomach
3	chr5:147807400-147826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:147808000-147832000	Weak transcription	Right Ventricle	heart
8	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:147815600-147832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:147817000-147829600	Weak transcription	Pancreas	Pancrea
11	chr5:147817000-147834200	Weak transcription	Gastric	stomach
12	chr5:147818200-147830600	Weak transcription	Aorta	Aorta
13	chr5:147819000-147825800	Weak transcription	HSMMtube	muscle
14	chr5:147819400-147831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:147820800-147826400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:147820800-147826600	Weak transcription	Small Intestine	intestine
17	chr5:147821200-147826200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:147821800-147826000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:147821800-147826200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:147821800-147826200	Weak transcription	Fetal Stomach	stomach
21	chr5:147821800-147826200	Weak transcription	HepG2	liver
22	chr5:147821800-147826600	Weak transcription	NHLF	lung
23	chr5:147821800-147827000	Weak transcription	Primary B cells from cord blood	blood
24	chr5:147821800-147827600	Weak transcription	HSMM	muscle
25	chr5:147821800-147830400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:147822000-147826400	Weak transcription	NHEK	skin
27	chr5:147822000-147828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:147822200-147826000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:147822200-147826400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:147822200-147826600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:147822400-147828600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:147822400-147833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:147822400-147834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:147822400-147839200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:147822800-147830800	Enhancers	Fetal Heart	heart
36	chr5:147823000-147826200	Weak transcription	Lung	lung
37	chr5:147823000-147826400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:147823000-147826600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:147823000-147827600	Enhancers	Fetal Intestine Large	intestine
40	chr5:147823000-147828000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:147823000-147834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:147823200-147826000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:147823200-147833600	Weak transcription	Brain Germinal Matrix	brain
44	chr5:147823400-147825800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:147823400-147826000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:147823400-147827000	Weak transcription	Adipose Nuclei	Adipose
47	chr5:147823400-147827400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:147823400-147827600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:147823400-147831000	Weak transcription	Primary T cells from cord blood	blood
50	chr5:147823400-147832200	Weak transcription	Fetal Muscle Leg	muscle

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