Variant report

Variant	nsv998920
Chromosome Location	chr2:134382097-134424640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:134404986..134407643-chr2:134417427..134419561,2	MCF-7	breast:
2	chr2:134383649..134385456-chr2:134399469..134401121,2	MCF-7	breast:
3	chr2:134383649..134385456-chr2:134399469..134401121,2	MCF-7	breast:
4	chr2:134020041..134020759-chr2:134398921..134399467,2	MCF-7	breast:
5	chr2:134404986..134407643-chr2:134417427..134419561,2	MCF-7	breast:
6	chr2:134393103..134394680-chr2:134395761..134398691,2	MCF-7	breast:
7	chr2:134263749..134265675-chr2:134399274..134401241,2	MCF-7	breast:
8	chr2:134386454..134389246-chr2:134397997..134400619,2	MCF-7	breast:
9	chr2:134365245..134367451-chr2:134398214..134401016,3	MCF-7	breast:
10	chr2:134393103..134394680-chr2:134395761..134398691,2	MCF-7	breast:
11	chr2:134386454..134389246-chr2:134397997..134400619,2	MCF-7	breast:
12	chr10:42529282..42529919-chr2:134391577..134392424,2	MCF-7	breast:

No data

Extended variants
information (count: 1518 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13393385	chr2:134382097-134382098	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370074931	chr2:134382109-134382110	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577868645	chr2:134382167-134382168	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146256060	chr2:134382193-134382194	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183847083	chr2:134382196-134382197	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551940266	chr2:134382197-134382198	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372481227	chr2:134382313-134382314	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568658320	chr2:134382368-134382369	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570226846	chr2:134382503-134382504	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188021982	chr2:134382542-134382543	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534435717	chr2:134382613-134382614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546612382	chr2:134382640-134382641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567995000	chr2:134382648-134382649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535408642	chr2:134382651-134382652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550354090	chr2:134382668-134382669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554060723	chr2:134382673-134382674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568663017	chr2:134382739-134382740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13409971	chr2:134382780-134382781	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75925553	chr2:134382812-134382813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577299207	chr2:134382821-134382822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534686957	chr2:134382851-134382852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189643888	chr2:134382872-134382873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575200270	chr2:134382925-134382926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542499652	chr2:134382949-134382950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541998715	chr2:134382994-134382995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563976184	chr2:134382998-134382999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149524013	chr2:134383011-134383012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575880597	chr2:134383059-134383060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546393859	chr2:134383073-134383074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116837146	chr2:134383117-134383118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528221439	chr2:134383160-134383161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546276961	chr2:134383193-134383194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182620472	chr2:134383207-134383208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528858555	chr2:134383267-134383268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550431549	chr2:134383269-134383270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386650786	chr2:134383315-134383316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10178505	chr2:134383316-134383317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112201762	chr2:134383366-134383367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570853861	chr2:134383396-134383397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535160039	chr2:134383435-134383436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201498727	chr2:134383438-134383439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10193288	chr2:134383440-134383441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574838822	chr2:134383528-134383529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535873687	chr2:134383595-134383596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186890462	chr2:134383599-134383600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13397504	chr2:134383618-134383619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78382527	chr2:134383632-134383633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546060327	chr2:134383708-134383709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192142773	chr2:134383736-134383737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114018905	chr2:134383755-134383756	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134368000-134389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134377600-134385200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:134381200-134383200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:134382000-134382200	Enhancers	Brain Angular Gyrus	brain
5	chr2:134382000-134382400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:134382000-134382400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:134382000-134382600	Enhancers	NHEK	skin
8	chr2:134382400-134389600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:134382400-134389600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:134382600-134389600	Weak transcription	NHEK	skin
11	chr2:134384000-134385000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:134385000-134385600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:134385000-134385600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:134385000-134385600	Enhancers	Brain Hippocampus Middle	brain
15	chr2:134385000-134385600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:134385000-134386000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:134385000-134386200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:134385000-134386400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:134385200-134385600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:134385200-134385600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:134385200-134385600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:134385200-134385600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:134385200-134385600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:134385200-134385600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:134385200-134385600	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:134385200-134385600	Enhancers	Brain Substantia Nigra	brain
27	chr2:134385200-134386000	Enhancers	Brain Angular Gyrus	brain
28	chr2:134385200-134386000	Enhancers	Brain Anterior Caudate	brain
29	chr2:134385200-134390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:134385400-134385800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:134385400-134386000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:134385400-134386200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:134385600-134387600	Weak transcription	Brain Substantia Nigra	brain
34	chr2:134385600-134387800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:134386000-134386800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:134386000-134390600	Weak transcription	Brain Angular Gyrus	brain
37	chr2:134386200-134387200	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:134386600-134387800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:134386800-134392000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:134388400-134391600	Weak transcription	Right Atrium	heart
41	chr2:134388800-134389400	Weak transcription	Brain Substantia Nigra	brain
42	chr2:134389000-134389600	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:134389400-134390000	Weak transcription	Brain Anterior Caudate	brain
44	chr2:134389400-134391600	Enhancers	Brain Substantia Nigra	brain
45	chr2:134389600-134389800	Enhancers	Esophagus	oesophagus
46	chr2:134389600-134390000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:134389600-134390200	Enhancers	HMEC	breast
48	chr2:134389600-134390800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:134389600-134390800	Enhancers	NHEK	skin
50	chr2:134389600-134391200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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