Variant report

Variant	rs9368924
Chromosome Location	chr6:36353934-36353935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36353258..36355030-chr6:36561676..36563498,3	K562	blood:
2	chr6:36352878..36356022-chr6:36409199..36411763,4	K562	blood:
3	chr6:36346736..36349026-chr6:36352669..36354274,2	K562	blood:
4	chr6:36352652..36355628-chr6:36561325..36563176,3	K562	blood:

Variant related genes	Relation type
ENSG00000112078	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1076928	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11757823	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13210133	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2145749	0.82[ASN][1000 genomes]
rs2187810	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2234064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234071	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798480	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295471	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4308555	0.80[ASN][1000 genomes]
rs6905318	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906885	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6919571	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6931970	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7755006	0.85[ASN][1000 genomes]
rs7765868	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7766404	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7771459	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs881647	0.94[EUR][1000 genomes]
rs9296180	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9296181	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9296182	0.84[ASN][1000 genomes]
rs9357212	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357213	0.81[ASN][1000 genomes]
rs9366904	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9368926	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368928	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9368929	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368930	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368931	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9380569	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9380572	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394349	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394350	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9462182	0.82[ASN][1000 genomes]
rs9470270	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428481	chr6:36219000-36365746	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9368924	ETV7	cis	lung	GTEx
rs9368924	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36326800-36354000	Weak transcription	Small Intestine	intestine
2	chr6:36327000-36354000	Weak transcription	Right Atrium	heart
3	chr6:36339200-36354200	Weak transcription	Esophagus	oesophagus
4	chr6:36344200-36354000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:36351200-36354200	Weak transcription	Spleen	Spleen
6	chr6:36351800-36354000	Weak transcription	NHEK	skin
7	chr6:36352000-36354200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:36352200-36354000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:36352200-36354200	Weak transcription	GM12878-XiMat	blood
10	chr6:36353600-36354000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:36353600-36354000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:36353600-36354000	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr6:36353600-36354000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:36353600-36354000	Enhancers	Fetal Intestine Large	intestine
15	chr6:36353600-36354000	Enhancers	Fetal Intestine Small	intestine
16	chr6:36353600-36354000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr6:36353600-36354200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:36353600-36354200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:36353600-36354200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr6:36353600-36354200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr6:36353600-36354400	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:36353600-36355000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:36353600-36355800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:36353800-36354000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:36353800-36354000	Enhancers	Brain Substantia Nigra	brain
26	chr6:36353800-36354000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:36353800-36354000	Enhancers	Placenta	Placenta
28	chr6:36353800-36354000	Enhancers	Left Ventricle	heart
29	chr6:36353800-36354000	Weak transcription	Lung	lung
30	chr6:36353800-36354000	Enhancers	Ovary	ovary
31	chr6:36353800-36354000	Enhancers	Pancreas	Pancrea
32	chr6:36353800-36354000	Weak transcription	Stomach Mucosa	stomach
33	chr6:36353800-36354000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr6:36353800-36354200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:36353800-36354200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:36353800-36354200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr6:36353800-36354200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr6:36353800-36354400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:36353800-36354600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:36353800-36354800	Active TSS	Rectal Smooth Muscle	rectum
41	chr6:36353800-36354800	Active TSS	Osteobl	bone
42	chr6:36353800-36355000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr6:36353800-36355800	Active TSS	Aorta	Aorta

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