Variant report

Variant	rs9620930
Chromosome Location	chr22:30337913-30337914
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs11090582	1.00[EUR][1000 genomes]
rs12166580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166648	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12166746	1.00[AMR][1000 genomes]
rs12167143	1.00[AMR][1000 genomes]
rs12167519	1.00[AMR][1000 genomes]
rs12169015	1.00[AMR][1000 genomes]
rs12169042	1.00[AMR][1000 genomes]
rs16988011	1.00[EUR][1000 genomes]
rs16988043	1.00[EUR][1000 genomes]
rs16988044	1.00[EUR][1000 genomes]
rs16988062	1.00[EUR][1000 genomes]
rs41479445	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	1.00[EUR][1000 genomes]
rs59542747	1.00[EUR][1000 genomes]
rs7286724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394816	1.00[EUR][1000 genomes]
rs73394842	1.00[EUR][1000 genomes]
rs73400621	1.00[EUR][1000 genomes]
rs9620939	1.00[EUR][1000 genomes]
rs9620945	1.00[AMR][1000 genomes]
rs9620947	1.00[AMR][1000 genomes]
rs9625869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625903	1.00[EUR][1000 genomes]
rs9625907	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625929	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3512715	chr22:30335602-30338200	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30311800-30340400	Weak transcription	HSMM	muscle
3	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
5	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
7	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:30321400-30339800	Weak transcription	Lung	lung
9	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
10	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:30331600-30339800	Weak transcription	Ovary	ovary
15	chr22:30332000-30342200	Weak transcription	Gastric	stomach
16	chr22:30332600-30339800	Weak transcription	Left Ventricle	heart
17	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
18	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:30332800-30340200	Weak transcription	Stomach Mucosa	stomach
20	chr22:30332800-30341000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:30332800-30343800	Weak transcription	Adipose Nuclei	Adipose
22	chr22:30333600-30343600	Weak transcription	Brain Anterior Caudate	brain
23	chr22:30334200-30341000	Weak transcription	Right Atrium	heart
24	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
25	chr22:30334400-30341200	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:30334600-30340000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:30334600-30340400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:30334600-30341000	Weak transcription	Psoas Muscle	Psoas
29	chr22:30334600-30341000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:30334800-30340000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:30335000-30340000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:30335600-30338200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:30335800-30341000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:30336400-30339800	Weak transcription	Spleen	Spleen
35	chr22:30337000-30338200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr22:30337000-30338200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr22:30337000-30338200	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr22:30337000-30342000	Weak transcription	Brain Substantia Nigra	brain
39	chr22:30337400-30338000	Enhancers	HSMMtube	muscle
40	chr22:30337400-30340000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:30337600-30340000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr22:30337600-30340000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:30337600-30340200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:30337800-30338000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:30337800-30338000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr22:30337800-30338200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr22:30337800-30338200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr22:30337800-30338400	ZNF genes & repeats	Fetal Intestine Small	intestine

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