Variant report

Variant	rs3118764
Chromosome Location	chr9:97028239-97028240
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	chr9:97017627..97019343-chr9:97026034..97028389,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10114209	1.00[ASN][1000 genomes]
rs10115657	1.00[ASN][1000 genomes]
rs12336524	1.00[ASN][1000 genomes]
rs12340918	1.00[ASN][1000 genomes]
rs1887682	1.00[ASN][1000 genomes]
rs2225184	1.00[ASN][1000 genomes]
rs3118749	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3118750	1.00[ASN][1000 genomes]
rs3118751	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3118752	1.00[ASN][1000 genomes]
rs3118757	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3118758	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3118759	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3118760	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3131905	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3131906	1.00[ASN][1000 genomes]
rs3131907	1.00[ASN][1000 genomes]
rs3131908	1.00[ASN][1000 genomes]
rs3131909	1.00[ASN][1000 genomes]
rs34433105	1.00[ASN][1000 genomes]
rs73653452	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97022000-97028600	Weak transcription	Small Intestine	intestine
2	chr9:97022200-97028400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:97022200-97028400	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:97022200-97028600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:97022200-97031400	Weak transcription	Left Ventricle	heart
6	chr9:97022200-97031600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:97022200-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:97022200-97031600	Weak transcription	HSMMtube	muscle
9	chr9:97022200-97033400	Weak transcription	Fetal Stomach	stomach
10	chr9:97022200-97040800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:97022200-97041800	Weak transcription	Fetal Lung	lung
12	chr9:97022200-97042600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr9:97022200-97055200	Weak transcription	Aorta	Aorta
14	chr9:97022400-97028600	Weak transcription	Fetal Intestine Large	intestine
15	chr9:97022400-97031400	Weak transcription	NHEK	skin
16	chr9:97022400-97036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:97022600-97028600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:97022600-97028800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:97022600-97029200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:97022600-97040600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:97022600-97055200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:97022800-97028600	Weak transcription	Primary B cells from cord blood	blood
23	chr9:97022800-97029200	Weak transcription	HSMM	muscle
24	chr9:97022800-97031400	Weak transcription	Psoas Muscle	Psoas
25	chr9:97022800-97040800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr9:97022800-97040800	Weak transcription	Thymus	Thymus
27	chr9:97022800-97042400	Weak transcription	Brain Angular Gyrus	brain
28	chr9:97022800-97054600	Weak transcription	Pancreas	Pancrea
29	chr9:97023000-97028400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr9:97023000-97028400	Weak transcription	A549	lung
31	chr9:97023000-97029000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:97023000-97029200	Weak transcription	Spleen	Spleen
33	chr9:97023000-97029800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr9:97023000-97030000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:97023000-97031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:97023000-97036400	Weak transcription	Primary T cells from cord blood	blood
37	chr9:97023000-97040600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr9:97023000-97040600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr9:97023000-97040600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:97023000-97040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:97023000-97040600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:97023000-97040800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:97023000-97040800	Weak transcription	Lung	lung
44	chr9:97023000-97041000	Weak transcription	Adipose Nuclei	Adipose
45	chr9:97023000-97041000	Weak transcription	Ovary	ovary
46	chr9:97023000-97041800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:97023000-97041800	Weak transcription	Esophagus	oesophagus
48	chr9:97023000-97050000	Weak transcription	Right Ventricle	heart
49	chr9:97023000-97055400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:97023200-97028600	Weak transcription	Primary B cells from peripheral blood	blood

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