Variant report

Variant	rs12340918
Chromosome Location	chr9:97023508-97023509
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10114209	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10115657	1.00[ASN][1000 genomes]
rs12336524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887682	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2225184	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3118749	0.82[ASN][1000 genomes]
rs3118750	1.00[ASN][1000 genomes]
rs3118751	1.00[ASN][1000 genomes]
rs3118752	0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs3118757	1.00[ASN][1000 genomes]
rs3118758	1.00[ASN][1000 genomes]
rs3118759	1.00[ASN][1000 genomes]
rs3118760	1.00[ASN][1000 genomes]
rs3118764	1.00[ASN][1000 genomes]
rs3131905	0.82[ASN][1000 genomes]
rs3131906	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3131907	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3131908	1.00[ASN][1000 genomes]
rs3131909	1.00[ASN][1000 genomes]
rs34433105	1.00[ASN][1000 genomes]
rs73653452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
2	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases
3	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1054784	chr9:96976419-97025515	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv540174	chr9:96976419-97025515	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97022000-97028600	Weak transcription	Small Intestine	intestine
2	chr9:97022200-97023600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:97022200-97024400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:97022200-97026200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:97022200-97028400	Weak transcription	Fetal Intestine Small	intestine
6	chr9:97022200-97028400	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:97022200-97028600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:97022200-97031400	Weak transcription	Left Ventricle	heart
9	chr9:97022200-97031600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:97022200-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:97022200-97031600	Weak transcription	HSMMtube	muscle
12	chr9:97022200-97033400	Weak transcription	Fetal Stomach	stomach
13	chr9:97022200-97040800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:97022200-97041800	Weak transcription	Fetal Lung	lung
15	chr9:97022200-97042600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:97022200-97055200	Weak transcription	Aorta	Aorta
17	chr9:97022400-97025000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:97022400-97026400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:97022400-97026600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:97022400-97028600	Weak transcription	Fetal Intestine Large	intestine
21	chr9:97022400-97031400	Weak transcription	NHEK	skin
22	chr9:97022400-97036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:97022600-97024400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:97022600-97026400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:97022600-97026400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:97022600-97027800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:97022600-97028600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:97022600-97028800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:97022600-97029200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:97022600-97040600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:97022600-97055200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:97022800-97025400	Weak transcription	Fetal Thymus	thymus
33	chr9:97022800-97025800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr9:97022800-97028600	Weak transcription	Primary B cells from cord blood	blood
35	chr9:97022800-97029200	Weak transcription	HSMM	muscle
36	chr9:97022800-97031400	Weak transcription	Psoas Muscle	Psoas
37	chr9:97022800-97040800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:97022800-97040800	Weak transcription	Thymus	Thymus
39	chr9:97022800-97042400	Weak transcription	Brain Angular Gyrus	brain
40	chr9:97022800-97054600	Weak transcription	Pancreas	Pancrea
41	chr9:97023000-97023800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr9:97023000-97023800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:97023000-97023800	Weak transcription	GM12878-XiMat	blood
44	chr9:97023000-97024000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr9:97023000-97024200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:97023000-97024400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr9:97023000-97024400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:97023000-97024400	Weak transcription	Gastric	stomach
49	chr9:97023000-97025000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:97023000-97025400	Weak transcription	K562	blood

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