Variant report

Variant	esv17157
Chromosome Location	chr22:33755873-33760446
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	chr22:33754382..33757295-chr22:33782383..33785035,2	K562	blood:
2	chr14:51706606..51707166-chr22:33757749..33758269,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139921	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57846459	chr22:33755891-33755892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187625624	chr22:33755951-33755952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145859874	chr22:33755963-33755964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576572090	chr22:33756003-33756004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5754535	chr22:33756016-33756017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs5754536	chr22:33756023-33756024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138835783	chr22:33756100-33756101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532814040	chr22:33756155-33756156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533318118	chr22:33756167-33756168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546568921	chr22:33756258-33756259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560444608	chr22:33756297-33756298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547327282	chr22:33756322-33756323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191238892	chr22:33756362-33756363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549119247	chr22:33756539-33756540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375404928	chr22:33756558-33756559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184864171	chr22:33756595-33756596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189267829	chr22:33756688-33756689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568724956	chr22:33756739-33756740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562860998	chr22:33756761-33756762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537517397	chr22:33756783-33756784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551086423	chr22:33756796-33756797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570892244	chr22:33756798-33756799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533592253	chr22:33756805-33756806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7289077	chr22:33756829-33756830	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529567870	chr22:33756904-33756905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574235405	chr22:33756906-33756907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5749606	chr22:33756920-33756921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181773624	chr22:33756931-33756932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549345325	chr22:33756940-33756941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111848956	chr22:33756964-33756965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545503235	chr22:33756974-33756975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565420279	chr22:33756981-33756982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572468064	chr22:33757060-33757061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144635428	chr22:33757063-33757064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148052084	chr22:33757092-33757093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561134522	chr22:33757094-33757095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141780266	chr22:33757109-33757110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112683640	chr22:33757118-33757119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576985994	chr22:33757144-33757145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562319985	chr22:33757145-33757146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542542359	chr22:33757198-33757199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568199403	chr22:33757249-33757250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531434744	chr22:33757264-33757265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150832161	chr22:33757269-33757270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570965853	chr22:33757274-33757275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185260699	chr22:33757315-33757316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202020599	chr22:33757320-33757321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570119742	chr22:33757425-33757426	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59956690	chr22:33757455-33757456	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374016209	chr22:33757466-33757467	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	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:62 , 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	chr22:33747000-33756400	Weak transcription	Fetal Stomach	stomach
15	chr22:33747200-33757400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:33747400-33758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:33747400-33762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:33747400-33768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:33747400-33775600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:33748200-33766800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:33751400-33763800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:33751400-33765000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:33751600-33758800	Weak transcription	Aorta	Aorta
24	chr22:33751800-33757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:33752400-33757800	Weak transcription	Fetal Heart	heart
26	chr22:33754000-33758000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:33755400-33768400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:33755600-33757400	Weak transcription	Left Ventricle	heart
29	chr22:33755600-33758000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:33755600-33773600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr22:33756400-33757800	Strong transcription	Fetal Stomach	stomach
32	chr22:33757400-33757600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:33757400-33757600	Enhancers	Gastric	stomach
34	chr22:33757400-33757600	Genic enhancers	Left Ventricle	heart
35	chr22:33757400-33758000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:33757400-33758000	Enhancers	Primary B cells from peripheral blood	blood
37	chr22:33757400-33758200	Enhancers	NHDF-Ad	bronchial
38	chr22:33757400-33758400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:33757600-33757800	Enhancers	Left Ventricle	heart
40	chr22:33757600-33758600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:33757600-33761000	Weak transcription	Gastric	stomach
42	chr22:33757800-33758000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:33757800-33758200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:33757800-33758400	Enhancers	Osteobl	bone
45	chr22:33757800-33758600	Enhancers	Fetal Heart	heart
46	chr22:33757800-33777000	Weak transcription	Fetal Stomach	stomach
47	chr22:33757800-33777200	Weak transcription	Left Ventricle	heart
48	chr22:33758000-33758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:33758000-33758200	Enhancers	HSMMtube	muscle
50	chr22:33758000-33758600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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