Variant report

Variant	rs10114112
Chromosome Location	chr9:71328180-71328181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10115067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10115418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10116755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10123673	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10124349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10869219	0.82[AMR][1000 genomes]
rs10869224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10869250	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11143558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12000046	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12352713	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58093852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7042717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	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
7	esv2752385	chr9:71304465-71332240	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71321800-71329200	Weak transcription	Gastric	stomach
2	chr9:71321800-71329400	Weak transcription	Lung	lung
3	chr9:71322000-71329800	Weak transcription	Pancreas	Pancrea
4	chr9:71322000-71349400	Weak transcription	Aorta	Aorta
5	chr9:71322200-71329400	Weak transcription	Left Ventricle	heart
6	chr9:71322200-71335000	Weak transcription	Placenta	Placenta
7	chr9:71322600-71329600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:71322600-71329800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:71322800-71333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:71323400-71331800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:71323600-71335800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:71324000-71329200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:71324400-71329400	Weak transcription	Colonic Mucosa	Colon
14	chr9:71324400-71346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:71324600-71329200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:71325200-71328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:71325200-71332200	Strong transcription	Primary B cells from cord blood	blood
18	chr9:71325600-71329800	Weak transcription	Right Atrium	heart
19	chr9:71325800-71329400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:71325800-71329400	Weak transcription	GM12878-XiMat	blood
21	chr9:71326200-71329000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:71326200-71329200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:71326400-71329400	Weak transcription	K562	blood
24	chr9:71326400-71333400	Weak transcription	Brain Germinal Matrix	brain
25	chr9:71326800-71330400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr9:71327000-71329400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:71327400-71329200	Enhancers	Stomach Mucosa	stomach
28	chr9:71327400-71329400	Weak transcription	Right Ventricle	heart
29	chr9:71327400-71332400	Weak transcription	HepG2	liver
30	chr9:71327400-71333200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:71327600-71328400	Weak transcription	Fetal Intestine Large	intestine
32	chr9:71327600-71328800	Weak transcription	Fetal Heart	heart
33	chr9:71327800-71328200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:71328000-71328200	Strong transcription	Fetal Intestine Small	intestine
35	chr9:71328000-71332000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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