Variant report

Variant	rs390235
Chromosome Location	chr9:107979035-107979036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10120310	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343137	1.00[ASN][1000 genomes]
rs364564	1.00[ASN][1000 genomes]
rs365629	1.00[ASN][1000 genomes]
rs366018	1.00[ASN][1000 genomes]
rs372554	1.00[ASN][1000 genomes]
rs372747	1.00[ASN][1000 genomes]
rs375371	1.00[ASN][1000 genomes]
rs378716	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383126	1.00[ASN][1000 genomes]
rs399707	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401899	1.00[ASN][1000 genomes]
rs405704	1.00[ASN][1000 genomes]
rs409595	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413598	1.00[ASN][1000 genomes]
rs416573	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420672	1.00[ASN][1000 genomes]
rs421342	1.00[ASN][1000 genomes]
rs421495	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423477	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427497	0.98[ASN][1000 genomes]
rs435267	0.98[ASN][1000 genomes]
rs453041	0.98[ASN][1000 genomes]
rs453378	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046935	chr9:107414720-108028061	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv893684	chr9:107893629-108001107	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1043466	chr9:107950174-108001988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:107978200-107979600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:107978400-107979200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:107978400-107979200	Enhancers	Liver	Liver
4	chr9:107978400-107979200	Enhancers	Colonic Mucosa	Colon
5	chr9:107978400-107979200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr9:107978400-107979200	Enhancers	Fetal Brain Male	brain
7	chr9:107978400-107979200	Enhancers	Gastric	stomach
8	chr9:107978400-107979200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr9:107978400-107979400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:107978400-107979400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:107978400-107979400	Enhancers	Fetal Intestine Large	intestine
12	chr9:107978400-107979400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr9:107978400-107979600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:107978400-107979600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:107978400-107979600	Enhancers	Fetal Intestine Small	intestine
16	chr9:107978400-107979600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr9:107978400-107979800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:107978400-107979800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:107978400-107979800	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:107978400-107979800	Enhancers	Stomach Mucosa	stomach
21	chr9:107978400-107980200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:107978600-107979200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:107978600-107979200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr9:107978600-107979200	Enhancers	Fetal Lung	lung
25	chr9:107978600-107979200	Enhancers	Left Ventricle	heart
26	chr9:107978600-107979200	Enhancers	Lung	lung
27	chr9:107978600-107979200	Enhancers	Pancreas	Pancrea
28	chr9:107978600-107979200	Flanking Active TSS	HepG2	liver
29	chr9:107978600-107979400	Enhancers	Brain Angular Gyrus	brain
30	chr9:107978600-107979400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr9:107978600-107979400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr9:107978600-107979400	Enhancers	Rectal Smooth Muscle	rectum
33	chr9:107978600-107979600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:107978600-107979600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:107978600-107979600	Enhancers	Fetal Heart	heart
36	chr9:107978600-107979800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:107978600-107979800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:107978600-107979800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr9:107978800-107979200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:107978800-107979200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr9:107978800-107979200	Enhancers	HSMMtube	muscle
42	chr9:107978800-107979200	Enhancers	Osteobl	bone
43	chr9:107978800-107979400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr9:107978800-107979400	Enhancers	Stomach Smooth Muscle	stomach
45	chr9:107978800-107979600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr9:107978800-107979800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr9:107978800-107980000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:107978800-107980200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr9:107978800-107980200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:107979000-107979200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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