Variant report

Variant	nsv819480
Chromosome Location	chr2:113096266-113096911
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	chr2:113026800..113028527-chr2:113095973..113097554,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200404260	chr2:113096339-113096340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539860553	chr2:113096350-113096351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535788371	chr2:113096402-113096403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10632361	chr2:113096406-113096407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35049294	chr2:113096407-113096408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398104619	chr2:113096417-113096418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377175474	chr2:113096418-113096419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369884412	chr2:113096420-113096421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372714123	chr2:113096422-113096423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375787704	chr2:113096424-113096425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7598488	chr2:113096428-113096429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111685812	chr2:113096432-113096433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558861184	chr2:113096436-113096437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185006157	chr2:113096460-113096461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188338519	chr2:113096464-113096465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181245972	chr2:113096470-113096471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186600900	chr2:113096472-113096473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112345638	chr2:113096529-113096530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183731566	chr2:113096613-113096614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577015772	chr2:113096638-113096639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574592165	chr2:113096642-113096643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543481696	chr2:113096643-113096644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563077533	chr2:113096649-113096650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531946898	chr2:113096671-113096672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555421533	chr2:113096717-113096718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186225246	chr2:113096787-113096788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7599041	chr2:113096857-113096858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547005831	chr2:113096859-113096860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113034400-113097000	Weak transcription	Psoas Muscle	Psoas
2	chr2:113057000-113099400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:113059200-113096800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:113068200-113101400	Weak transcription	NHDF-Ad	bronchial
5	chr2:113069000-113097000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113082200-113097000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:113082200-113097000	Weak transcription	Gastric	stomach
8	chr2:113083000-113097000	Weak transcription	Pancreas	Pancrea
9	chr2:113083400-113096400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:113085800-113103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:113086000-113097000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:113089200-113097600	Weak transcription	Fetal Kidney	kidney
13	chr2:113089400-113103400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:113089600-113097600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:113089600-113098000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:113089600-113100600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:113089600-113101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:113089600-113101400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:113089800-113097800	Weak transcription	Primary T cells from cord blood	blood
20	chr2:113089800-113101000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:113090000-113096800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:113090000-113097000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:113090000-113097000	Weak transcription	HepG2	liver
24	chr2:113090000-113098000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:113090000-113098000	Weak transcription	Fetal Stomach	stomach
26	chr2:113090000-113098000	Weak transcription	Ovary	ovary
27	chr2:113090000-113101000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:113090000-113101200	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:113090000-113101600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:113090000-113103400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:113090000-113103400	Weak transcription	Spleen	Spleen
32	chr2:113093600-113097600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:113094400-113097000	Weak transcription	Fetal Intestine Small	intestine
34	chr2:113095400-113100800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:113096800-113101400	Enhancers	Fetal Intestine Large	intestine

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