Variant report

Variant	rs4745229
Chromosome Location	chr9:71344825-71344826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10121993	0.84[ASN][1000 genomes]
rs10217316	0.85[ASN][1000 genomes]
rs10746919	0.85[ASN][1000 genomes]
rs10781117	0.84[ASN][1000 genomes]
rs10781119	0.84[ASN][1000 genomes]
rs10869225	0.84[ASN][1000 genomes]
rs10869245	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2151412	0.91[ASN][1000 genomes]
rs2151416	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2151417	0.86[ASN][1000 genomes]
rs2151418	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2184117	0.84[ASN][1000 genomes]
rs4352908	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4534183	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744680	0.82[ASN][1000 genomes]
rs4744683	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744685	0.83[ASN][1000 genomes]
rs4745223	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4745227	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4745230	0.85[ASN][1000 genomes]
rs6560316	0.80[ASN][1000 genomes]
rs7021661	0.85[ASN][1000 genomes]
rs7853748	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7857057	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867941	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71322000-71349400	Weak transcription	Aorta	Aorta
2	chr9:71324400-71346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:71334000-71345600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:71335000-71345000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:71335200-71346200	Weak transcription	Small Intestine	intestine
6	chr9:71336600-71346400	Weak transcription	Left Ventricle	heart
7	chr9:71337000-71350600	Weak transcription	Gastric	stomach
8	chr9:71342600-71345800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr9:71342600-71347400	Strong transcription	Primary B cells from cord blood	blood
10	chr9:71342600-71354600	Enhancers	Fetal Intestine Large	intestine
11	chr9:71343000-71346000	Weak transcription	K562	blood
12	chr9:71343400-71346000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:71343400-71363000	Weak transcription	GM12878-XiMat	blood
14	chr9:71343600-71346000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:71343800-71345600	Weak transcription	Fetal Heart	heart
16	chr9:71343800-71346200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:71343800-71347800	Weak transcription	Right Atrium	heart
18	chr9:71343800-71357200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr9:71344400-71346200	Enhancers	HepG2	liver
20	chr9:71344600-71346000	Enhancers	Duodenum Mucosa	Duodenum
21	chr9:71344600-71354000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:71344800-71345000	Enhancers	Stomach Mucosa	stomach
23	chr9:71344800-71350400	Enhancers	Fetal Intestine Small	intestine

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