Variant report

Variant	nsv966101
Chromosome Location	chr22:30939266-30940774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30830841..30833196-chr22:30936778..30939588,2	K562	blood:

Variant related genes	Relation type
ENSG00000203606	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560487771	chr22:30939281-30939282	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs56876050	chr22:30939299-30939300	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529317130	chr22:30939302-30939303	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549431987	chr22:30939334-30939335	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569285413	chr22:30939359-30939360	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142928873	chr22:30939382-30939383	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551579820	chr22:30939383-30939384	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536861513	chr22:30939438-30939439	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56174611	chr22:30939448-30939449	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71331244	chr22:30939470-30939471	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182755686	chr22:30939564-30939565	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576693053	chr22:30939590-30939591	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149859950	chr22:30939605-30939606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538565781	chr22:30939635-30939636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372435193	chr22:30939639-30939640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535139487	chr22:30939650-30939651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555407697	chr22:30939669-30939670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539314948	chr22:30939686-30939687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146661839	chr22:30939687-30939688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544377304	chr22:30939724-30939725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557824253	chr22:30939726-30939727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188963632	chr22:30939738-30939739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62227009	chr22:30939741-30939742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540529682	chr22:30939751-30939752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61740907	chr22:30939776-30939777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375785434	chr22:30939781-30939782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140241421	chr22:30939787-30939788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145316540	chr22:30939800-30939801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562969385	chr22:30939845-30939846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531713766	chr22:30939848-30939849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551502362	chr22:30939849-30939850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55700442	chr22:30939876-30939877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571506042	chr22:30939882-30939883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184760485	chr22:30939888-30939889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547671013	chr22:30939894-30939895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567880760	chr22:30939910-30939911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535401949	chr22:30939932-30939933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555072276	chr22:30939944-30939945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187217042	chr22:30939947-30939948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537929101	chr22:30939964-30939965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369036212	chr22:30939972-30939973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577890162	chr22:30939991-30939992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149045396	chr22:30939994-30939995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553996730	chr22:30940008-30940009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573872457	chr22:30940023-30940024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577705520	chr22:30940055-30940056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562732120	chr22:30940060-30940061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531642985	chr22:30940075-30940076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545080345	chr22:30940078-30940079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558360563	chr22:30940087-30940088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30938000-30939400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:30938400-30939600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:30938600-30939400	Bivalent Enhancer	Colon Smooth Muscle	Colon
4	chr22:30938800-30939400	Enhancers	Brain Anterior Caudate	brain
5	chr22:30938800-30939400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr22:30938800-30940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:30938800-30940000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:30939000-30939400	ZNF genes & repeats	Esophagus	oesophagus
9	chr22:30939000-30939400	Enhancers	K562	blood
10	chr22:30939000-30949800	Weak transcription	Brain Angular Gyrus	brain
11	chr22:30939000-30950800	Weak transcription	Pancreas	Pancrea
12	chr22:30939000-30951400	Weak transcription	Ovary	ovary
13	chr22:30939000-30962000	Weak transcription	Liver	Liver
14	chr22:30939200-30939400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:30939200-30939400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr22:30939200-30939400	Bivalent Enhancer	HepG2	liver
17	chr22:30939200-30940000	Enhancers	Lung	lung
18	chr22:30939200-30949800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:30939200-30951000	Weak transcription	Brain Substantia Nigra	brain
20	chr22:30939200-30951000	Weak transcription	Gastric	stomach
21	chr22:30939400-30939600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr22:30939400-30950200	Weak transcription	Brain Anterior Caudate	brain
23	chr22:30940000-30942600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:30940000-30942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:30940600-30940800	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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