Variant report

Variant	nsv588907
Chromosome Location	chr22:33756829-33760049
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	chr14:51706606..51707166-chr22:33757749..33758269,2	MCF-7	breast:
2	chr22:33754382..33757295-chr22:33782383..33785035,2	K562	blood:

Variant related genes	Relation type
ENSG00000139921	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7289077	chr22:33756829-33756830	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529567870	chr22:33756904-33756905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574235405	chr22:33756906-33756907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5749606	chr22:33756920-33756921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181773624	chr22:33756931-33756932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549345325	chr22:33756940-33756941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111848956	chr22:33756964-33756965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545503235	chr22:33756974-33756975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565420279	chr22:33756981-33756982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572468064	chr22:33757060-33757061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144635428	chr22:33757063-33757064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148052084	chr22:33757092-33757093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561134522	chr22:33757094-33757095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141780266	chr22:33757109-33757110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112683640	chr22:33757118-33757119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576985994	chr22:33757144-33757145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562319985	chr22:33757145-33757146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542542359	chr22:33757198-33757199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568199403	chr22:33757249-33757250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531434744	chr22:33757264-33757265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150832161	chr22:33757269-33757270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570965853	chr22:33757274-33757275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185260699	chr22:33757315-33757316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202020599	chr22:33757320-33757321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570119742	chr22:33757425-33757426	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59956690	chr22:33757455-33757456	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374016209	chr22:33757466-33757467	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190059431	chr22:33757510-33757511	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567172903	chr22:33757521-33757522	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111454900	chr22:33757528-33757529	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5998894	chr22:33757572-33757573	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs8142882	chr22:33757643-33757644	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539286149	chr22:33757700-33757701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559198436	chr22:33757701-33757702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142351828	chr22:33757710-33757711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35318822	chr22:33757711-33757712	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386395262	chr22:33757742-33757743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550202127	chr22:33757746-33757747	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74568536	chr22:33757753-33757754	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs59124776	chr22:33757757-33757758	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373377360	chr22:33757784-33757785	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368763372	chr22:33757790-33757791	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs8143073	chr22:33757827-33757828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs8135033	chr22:33757862-33757863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12628388	chr22:33757864-33757865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544722358	chr22:33757871-33757872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181318956	chr22:33757912-33757913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367725641	chr22:33757916-33757917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144339254	chr22:33757925-33757926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76063683	chr22:33757926-33757927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
5	chr22:33733800-33757600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
7	chr22:33734400-33757400	Weak transcription	Gastric	stomach
8	chr22:33734600-33757400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr22:33734600-33760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr22:33746400-33759000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:33746800-33757800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:33746800-33761400	Weak transcription	Fetal Intestine Small	intestine
14	chr22:33747200-33757400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:33747400-33758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:33747400-33762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:33747400-33768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:33747400-33775600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:33748200-33766800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:33751400-33763800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:33751400-33765000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:33751600-33758800	Weak transcription	Aorta	Aorta
23	chr22:33751800-33757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:33752400-33757800	Weak transcription	Fetal Heart	heart
25	chr22:33754000-33758000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:33755400-33768400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:33755600-33757400	Weak transcription	Left Ventricle	heart
28	chr22:33755600-33758000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:33755600-33773600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:33756400-33757800	Strong transcription	Fetal Stomach	stomach
31	chr22:33757400-33757600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:33757400-33757600	Enhancers	Gastric	stomach
33	chr22:33757400-33757600	Genic enhancers	Left Ventricle	heart
34	chr22:33757400-33758000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:33757400-33758000	Enhancers	Primary B cells from peripheral blood	blood
36	chr22:33757400-33758200	Enhancers	NHDF-Ad	bronchial
37	chr22:33757400-33758400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:33757600-33757800	Enhancers	Left Ventricle	heart
39	chr22:33757600-33758600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:33757600-33761000	Weak transcription	Gastric	stomach
41	chr22:33757800-33758000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:33757800-33758200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:33757800-33758400	Enhancers	Osteobl	bone
44	chr22:33757800-33758600	Enhancers	Fetal Heart	heart
45	chr22:33757800-33777000	Weak transcription	Fetal Stomach	stomach
46	chr22:33757800-33777200	Weak transcription	Left Ventricle	heart
47	chr22:33758000-33758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:33758000-33758200	Enhancers	HSMMtube	muscle
49	chr22:33758000-33758600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:33758000-33758600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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