Variant report

Variant	nsv960985
Chromosome Location	chr2:127737435-127753436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127736911..127738756-chr2:127748182..127751040,2	K562	blood:
2	chr2:127728843..127730664-chr2:127736005..127737630,2	MCF-7	breast:
3	chr2:127751023..127753651-chr2:127755367..127757675,2	MCF-7	breast:
4	chr2:127736911..127738756-chr2:127748182..127751040,2	K562	blood:
5	chr2:127734864..127736973-chr2:127738271..127740388,2	MCF-7	breast:

Extended variants
information (count: 690 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567526774	chr2:127737450-127737451	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536413131	chr2:127737451-127737452	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546308668	chr2:127737455-127737456	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565602063	chr2:127737500-127737501	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192627515	chr2:127737519-127737520	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185056611	chr2:127737534-127737535	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558318542	chr2:127737546-127737547	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575452691	chr2:127737560-127737561	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189171455	chr2:127737570-127737571	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369980949	chr2:127737586-127737587	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180857995	chr2:127737608-127737609	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554720985	chr2:127737612-127737613	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139910325	chr2:127737613-127737614	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573296421	chr2:127737616-127737617	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs831360	chr2:127737632-127737633	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531191638	chr2:127737647-127737648	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538595757	chr2:127737657-127737658	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143770337	chr2:127737665-127737666	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561116593	chr2:127737668-127737669	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530208821	chr2:127737698-127737699	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546833165	chr2:127737709-127737710	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572830671	chr2:127737710-127737711	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566560718	chr2:127737714-127737715	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74594604	chr2:127737744-127737745	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564581426	chr2:127737761-127737762	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146881568	chr2:127737786-127737787	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568775735	chr2:127737826-127737827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538110549	chr2:127737886-127737887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554882690	chr2:127737895-127737896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568399227	chr2:127737927-127737928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370927671	chr2:127738020-127738021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554397946	chr2:127738023-127738024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533964428	chr2:127738028-127738029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80080950	chr2:127738029-127738030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573242126	chr2:127738041-127738042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545180371	chr2:127738110-127738111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558874071	chr2:127738111-127738112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72980863	chr2:127738118-127738119	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140692894	chr2:127738148-127738149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561239691	chr2:127738191-127738192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530375423	chr2:127738251-127738252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540384268	chr2:127738271-127738272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574856108	chr2:127738275-127738276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116211670	chr2:127738279-127738280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186105386	chr2:127738299-127738300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111422307	chr2:127738301-127738302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568962350	chr2:127738360-127738361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189388418	chr2:127738406-127738407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559968038	chr2:127738409-127738410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181445388	chr2:127738410-127738411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127733800-127739000	Weak transcription	Fetal Lung	lung
2	chr2:127734400-127739000	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:127735600-127737600	Enhancers	Brain Angular Gyrus	brain
4	chr2:127735600-127738000	Enhancers	Brain Anterior Caudate	brain
5	chr2:127735600-127738000	Enhancers	Brain Hippocampus Middle	brain
6	chr2:127736000-127737600	Weak transcription	HepG2	liver
7	chr2:127736400-127738000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:127737000-127737800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:127737200-127737600	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:127737200-127737600	Active TSS	Brain Substantia Nigra	brain
11	chr2:127737400-127737800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:127737600-127737800	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr2:127737600-127737800	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr2:127737600-127737800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:127737600-127737800	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr2:127737600-127739000	Enhancers	HepG2	liver
17	chr2:127737800-127738000	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:127737800-127738400	Enhancers	Brain Substantia Nigra	brain
19	chr2:127739000-127739400	Enhancers	Fetal Lung	lung
20	chr2:127739000-127739400	Enhancers	Fetal Stomach	stomach
21	chr2:127739000-127739400	Flanking Active TSS	HepG2	liver
22	chr2:127739000-127739600	Enhancers	Fetal Muscle Leg	muscle
23	chr2:127739400-127747800	Enhancers	HepG2	liver
24	chr2:127740800-127742000	Enhancers	Liver	Liver
25	chr2:127742000-127747400	Weak transcription	Liver	Liver
26	chr2:127744000-127744400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:127744000-127744800	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:127744400-127744600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:127747400-127749200	Enhancers	Liver	Liver
30	chr2:127747600-127747800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:127747600-127748600	Enhancers	K562	blood
32	chr2:127747800-127748200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:127747800-127748400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:127747800-127749200	Flanking Active TSS	HepG2	liver
35	chr2:127748000-127748200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:127748000-127748400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:127748400-127748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:127748400-127749000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:127748600-127748800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:127748600-127749200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:127748600-127749200	Flanking Active TSS	K562	blood
42	chr2:127748800-127749000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:127748800-127749000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:127748800-127749000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:127748800-127749200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:127749000-127751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:127749000-127753600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:127749200-127749600	Enhancers	HepG2	liver
49	chr2:127749200-127750000	Enhancers	K562	blood
50	chr2:127749200-127752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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