Variant report

Variant	nsv526550
Chromosome Location	chr22:34204930-34221959
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	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:
2	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:

Extended variants
information (count: 752 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13053313	chr22:34204930-34204931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551830389	chr22:34204941-34204942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571603290	chr22:34204942-34204943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558776842	chr22:34204944-34204945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566039231	chr22:34204984-34204985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535056901	chr22:34205034-34205035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554530066	chr22:34205084-34205085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189794695	chr22:34205109-34205110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181347171	chr22:34205130-34205131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112979469	chr22:34205175-34205176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557116156	chr22:34205187-34205188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377620298	chr22:34205200-34205201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184028858	chr22:34205207-34205208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188413984	chr22:34205215-34205216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180782249	chr22:34205220-34205221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148515766	chr22:34205245-34205246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11433667	chr22:34205257-34205258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397951799	chr22:34205270-34205271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541785347	chr22:34205286-34205287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4820113	chr22:34205329-34205330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567386173	chr22:34205347-34205348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187414733	chr22:34205355-34205356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111694735	chr22:34205411-34205412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552700182	chr22:34205484-34205485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192253055	chr22:34205508-34205509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569815990	chr22:34205604-34205605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5754686	chr22:34205618-34205619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532525312	chr22:34205630-34205631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572748550	chr22:34205645-34205646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538534914	chr22:34205665-34205666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375460845	chr22:34205670-34205671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149984852	chr22:34205711-34205712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368338125	chr22:34205715-34205716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575153142	chr22:34205727-34205728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555274805	chr22:34205746-34205747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557350717	chr22:34205748-34205749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535314625	chr22:34205765-34205766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181948557	chr22:34205783-34205784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186990875	chr22:34205786-34205787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147659160	chr22:34205806-34205807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557054032	chr22:34205830-34205831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577003322	chr22:34205875-34205876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140830492	chr22:34205908-34205909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553181486	chr22:34205960-34205961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572987641	chr22:34205962-34205963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543829508	chr22:34205965-34205966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117148682	chr22:34205988-34205989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561854199	chr22:34205991-34205992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530054552	chr22:34205998-34205999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386820859	chr22:34206039-34206040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34193600-34208200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:34197600-34207600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:34197800-34212200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:34199000-34206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:34199800-34208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:34200200-34207000	Weak transcription	Fetal Lung	lung
7	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:34200800-34205200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:34201000-34207200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:34201400-34205800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:34202000-34208400	Enhancers	Fetal Heart	heart
12	chr22:34202400-34207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:34202600-34206400	Weak transcription	Fetal Stomach	stomach
14	chr22:34202600-34206600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:34202600-34208200	Weak transcription	Stomach Mucosa	stomach
16	chr22:34202600-34208200	Weak transcription	Spleen	Spleen
17	chr22:34202800-34205000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr22:34202800-34207400	Weak transcription	Fetal Intestine Small	intestine
19	chr22:34202800-34208200	Weak transcription	Lung	lung
20	chr22:34203200-34207600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr22:34203200-34208200	Weak transcription	Liver	Liver
22	chr22:34203600-34207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:34203600-34207800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:34203800-34206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:34204200-34207000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr22:34204200-34207200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:34204200-34208000	Weak transcription	Aorta	Aorta
28	chr22:34204400-34205200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:34204400-34205200	Enhancers	Right Atrium	heart
30	chr22:34204400-34207200	Weak transcription	NHDF-Ad	bronchial
31	chr22:34204600-34205400	Enhancers	GM12878-XiMat	blood
32	chr22:34204600-34206400	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:34204600-34207000	Weak transcription	NHLF	lung
34	chr22:34204600-34207200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:34204800-34205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:34204800-34205800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr22:34204800-34206000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr22:34204800-34206200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr22:34204800-34206200	Weak transcription	Left Ventricle	heart
40	chr22:34204800-34206200	Weak transcription	Psoas Muscle	Psoas
41	chr22:34204800-34206400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:34204800-34206400	Weak transcription	Right Ventricle	heart
43	chr22:34204800-34206800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:34204800-34207000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr22:34204800-34207000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr22:34204800-34207800	Weak transcription	Ovary	ovary
47	chr22:34204800-34211400	Weak transcription	Brain Germinal Matrix	brain
48	chr22:34204800-34212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:34205000-34206400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:34205200-34206200	Enhancers	HUES64 Cell Line	embryonic stem cell

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