Variant report

Variant	rs11794391
Chromosome Location	chr9:98681270-98681271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98681098..98682813-chr9:98750330..98752671,2	K562	blood:
2	chr9:98636642..98639611-chr9:98680367..98683270,2	K562	blood:

Variant related genes	Relation type
ENSG00000182150	Chromatin interaction
ENSG00000175611	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12684118	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12684321	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359916	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088294	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4743429	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60399336	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62562984	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963150	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482884	chr9:98530027-98691937	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv893599	chr9:98542410-98991254	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv893600	chr9:98608989-98775459	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1801890	chr9:98660433-98701801	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11794391	C9orf130	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98638800-98702200	Weak transcription	Pancreas	Pancrea
2	chr9:98640000-98685600	Weak transcription	Right Ventricle	heart
3	chr9:98640000-98718600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:98642800-98681800	Weak transcription	Fetal Kidney	kidney
5	chr9:98644400-98685600	Weak transcription	Gastric	stomach
6	chr9:98644600-98690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:98645600-98684200	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:98645800-98702200	Weak transcription	Aorta	Aorta
9	chr9:98646600-98681800	Weak transcription	HSMMtube	muscle
10	chr9:98649400-98694400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:98649400-98718600	Weak transcription	Spleen	Spleen
12	chr9:98659200-98685600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:98659800-98684200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr9:98660000-98706000	Weak transcription	Fetal Heart	heart
15	chr9:98660200-98684000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:98664000-98683200	Weak transcription	Brain Angular Gyrus	brain
17	chr9:98664000-98685600	Weak transcription	Brain Anterior Caudate	brain
18	chr9:98664000-98687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:98664200-98683600	Weak transcription	HMEC	breast
20	chr9:98664200-98685200	Weak transcription	Hela-S3	cervix
21	chr9:98664400-98685600	Weak transcription	NHEK	skin
22	chr9:98669000-98681800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:98669800-98683600	Weak transcription	NHLF	lung
24	chr9:98670600-98681800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:98670800-98684200	Weak transcription	Fetal Brain Male	brain
26	chr9:98670800-98684600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:98670800-98687200	Weak transcription	Stomach Mucosa	stomach
28	chr9:98672600-98685600	Weak transcription	Brain Substantia Nigra	brain
29	chr9:98673000-98685400	Weak transcription	NHDF-Ad	bronchial
30	chr9:98673200-98684200	Weak transcription	HUVEC	blood vessel
31	chr9:98673600-98702200	Weak transcription	Small Intestine	intestine
32	chr9:98674200-98682800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:98675400-98718600	Weak transcription	Esophagus	oesophagus
34	chr9:98676000-98681600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:98676200-98684200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:98676600-98693200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr9:98677000-98682000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:98677000-98685600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:98677200-98681400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:98677200-98682400	Strong transcription	Primary T cells from cord blood	blood
41	chr9:98677200-98686200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:98677200-98688400	Strong transcription	A549	lung
43	chr9:98677400-98681400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:98677400-98682600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr9:98677400-98682600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr9:98677400-98682800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:98677400-98682800	Strong transcription	Liver	Liver
48	chr9:98677400-98682800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:98677400-98683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:98677400-98683800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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