Variant report

Variant	rs9621675
Chromosome Location	chr22:33698546-33698547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33698165..33699011-chr22:35419690..35420674,2	K562	blood:
2	chr22:33697824..33698953-chr22:33975158..33976104,6	MCF-7	breast:
3	chr22:33697775..33698595-chr22:33975181..33976048,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913717	1.00[JPT][hapmap]
rs12159874	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160591	0.84[ASN][1000 genomes]
rs16992166	1.00[JPT][hapmap]
rs16992174	1.00[JPT][hapmap]
rs2157200	1.00[JPT][hapmap]
rs2283892	1.00[JPT][hapmap]
rs2283893	1.00[JPT][hapmap]
rs4322933	1.00[JPT][hapmap]
rs5998859	1.00[ASN][1000 genomes]
rs5998860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998864	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998866	0.84[ASN][1000 genomes]
rs5998879	1.00[JPT][hapmap]
rs5998881	1.00[JPT][hapmap]
rs5998882	1.00[JPT][hapmap]
rs5998883	1.00[JPT][hapmap]
rs5998884	1.00[JPT][hapmap]
rs5998886	1.00[JPT][hapmap]
rs5998887	1.00[JPT][hapmap]
rs5998888	1.00[JPT][hapmap]
rs5998889	1.00[JPT][hapmap]
rs60791078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166230	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135526	1.00[JPT][hapmap]
rs8137471	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8139132	1.00[JPT][hapmap]
rs8139519	1.00[JPT][hapmap]
rs8139984	1.00[JPT][hapmap]
rs8140876	1.00[JPT][hapmap]
rs9621676	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621677	0.87[ASN][1000 genomes]
rs9680635	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1055475	chr22:33680854-33710571	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1060896	chr22:33698546-33729763	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
5	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
6	chr22:33670600-33699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:33672600-33711800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:33673200-33709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:33673200-33710000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
11	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:33673800-33700000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:33677600-33709600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:33679200-33709600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:33679400-33705600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:33679400-33709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:33679400-33713800	Weak transcription	Brain Germinal Matrix	brain
19	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
20	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:33679800-33698600	Weak transcription	Spleen	Spleen
22	chr22:33684800-33700000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr22:33687000-33709600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:33690200-33718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:33690800-33698800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:33691600-33705800	Weak transcription	Gastric	stomach
27	chr22:33692400-33699800	Weak transcription	Right Ventricle	heart
28	chr22:33692600-33711200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:33693000-33700200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:33693000-33710400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:33693200-33701000	Enhancers	Primary B cells from peripheral blood	blood
32	chr22:33693800-33700400	Enhancers	Primary B cells from cord blood	blood
33	chr22:33694200-33703800	Weak transcription	Aorta	Aorta
34	chr22:33695200-33699800	Weak transcription	Fetal Intestine Small	intestine
35	chr22:33695800-33699000	Enhancers	Fetal Heart	heart
36	chr22:33696200-33709200	Weak transcription	Pancreas	Pancrea
37	chr22:33696200-33725000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
39	chr22:33696400-33700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:33696400-33725000	Weak transcription	Stomach Mucosa	stomach
41	chr22:33696600-33700000	Enhancers	GM12878-XiMat	blood
42	chr22:33696600-33721600	Weak transcription	Fetal Kidney	kidney
43	chr22:33697600-33699000	Enhancers	Ovary	ovary
44	chr22:33697800-33699200	Enhancers	Brain Hippocampus Middle	brain
45	chr22:33698000-33698600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:33698000-33698600	Enhancers	Placenta	Placenta
47	chr22:33698000-33698600	Genic enhancers	Fetal Stomach	stomach
48	chr22:33698000-33698800	Enhancers	HepG2	liver
49	chr22:33698000-33699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:33698000-33699600	Enhancers	Brain Inferior Temporal Lobe	brain

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