Variant report

Variant	nsv10194
Chromosome Location	chr2:133316237-133331490
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	chr2:133330055..133331591-chr2:133427502..133429942,2	MCF-7	breast:
2	chr2:133312121..133314029-chr2:133316957..133319082,2	K562	blood:

Variant related genes	Relation type
ENSG00000150551	chromatin interactions

Extended variants
information (count: 634 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149424861	chr2:133316245-133316246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192929800	chr2:133316256-133316257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76783644	chr2:133316294-133316295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185519149	chr2:133316319-133316320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549872777	chr2:133316321-133316322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571599864	chr2:133316343-133316344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532428666	chr2:133316357-133316358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547864156	chr2:133316373-133316374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566216289	chr2:133316391-133316392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144824427	chr2:133316399-133316400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548801200	chr2:133316428-133316429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561061209	chr2:133316439-133316440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570332353	chr2:133316456-133316457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537737398	chr2:133316464-133316465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374817788	chr2:133316485-133316486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148564018	chr2:133316497-133316498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116744062	chr2:133316552-133316553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534363176	chr2:133316608-133316609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552610131	chr2:133316612-133316613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190385953	chr2:133316646-133316647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4954340	chr2:133316659-133316660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192703267	chr2:133316660-133316661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563158215	chr2:133316661-133316662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575129011	chr2:133316670-133316671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546055238	chr2:133316671-133316672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564267810	chr2:133316674-133316675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532527631	chr2:133316761-133316762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547480402	chr2:133316766-133316767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183770439	chr2:133316775-133316776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4954341	chr2:133316794-133316795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548737323	chr2:133316799-133316800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75586794	chr2:133316830-133316831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573994819	chr2:133316837-133316838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116165091	chr2:133316838-133316839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35541457	chr2:133316853-133316854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532329238	chr2:133316871-133316872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376460951	chr2:133316882-133316883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536515754	chr2:133316961-133316962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534562909	chr2:133316962-133316963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552572686	chr2:133316976-133316977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146093015	chr2:133316993-133316994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547738595	chr2:133317001-133317002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535163456	chr2:133317007-133317008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556664178	chr2:133317031-133317032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140076490	chr2:133317038-133317039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4954342	chr2:133317050-133317051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs3109142	chr2:133317053-133317054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573055124	chr2:133317064-133317065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143633800	chr2:133317080-133317081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559770745	chr2:133317083-133317084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133302400-133321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133315200-133316800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:133316200-133316600	Enhancers	Stomach Smooth Muscle	stomach
4	chr2:133316800-133319800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:133317400-133318200	Enhancers	Gastric	stomach
6	chr2:133318000-133319600	Enhancers	Pancreas	Pancrea
7	chr2:133318000-133320400	Enhancers	Liver	Liver
8	chr2:133318200-133319000	Enhancers	Stomach Mucosa	stomach
9	chr2:133318400-133319000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:133318400-133321600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:133318600-133321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:133318800-133319200	Enhancers	Adipose Nuclei	Adipose
13	chr2:133319000-133319600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:133319000-133321200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:133319600-133321400	Weak transcription	Pancreas	Pancrea
16	chr2:133319800-133320600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:133320800-133321600	Enhancers	Fetal Brain Female	brain
18	chr2:133321200-133322000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:133321400-133322200	Enhancers	Pancreas	Pancrea
20	chr2:133321600-133322200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:133321600-133322200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:133322200-133324600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:133322200-133326200	Weak transcription	Pancreas	Pancrea
24	chr2:133322200-133328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:133322800-133326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:133326200-133326600	Enhancers	Fetal Heart	heart
27	chr2:133326200-133326600	Enhancers	Pancreas	Pancrea
28	chr2:133326600-133328200	Weak transcription	Fetal Heart	heart
29	chr2:133327600-133327800	Enhancers	Adipose Nuclei	Adipose
30	chr2:133327600-133328400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:133328000-133328600	Enhancers	Placenta	Placenta
32	chr2:133328200-133328400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:133328200-133331400	Enhancers	Fetal Heart	heart
34	chr2:133328400-133328600	Enhancers	Adipose Nuclei	Adipose
35	chr2:133330800-133331600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:133331000-133331600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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