Variant report

Variant	nsv963164
Chromosome Location	chr2:99829782-99832972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142631713	chr2:99829783-99829784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564542396	chr2:99829784-99829785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7580570	chr2:99829821-99829822	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs144884982	chr2:99829846-99829847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71376478	chr2:99829851-99829852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550041499	chr2:99829863-99829864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570063189	chr2:99829920-99829921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116299524	chr2:99829940-99829941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548714000	chr2:99829959-99829960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371190294	chr2:99829994-99829995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141789759	chr2:99829995-99829996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551517675	chr2:99830011-99830012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150850318	chr2:99830038-99830039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185135470	chr2:99830043-99830044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189558283	chr2:99830098-99830099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540083225	chr2:99830112-99830113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202032387	chr2:99830133-99830134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565164254	chr2:99830141-99830142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577096237	chr2:99830148-99830149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13013175	chr2:99830161-99830162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370600912	chr2:99830178-99830179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35996174	chr2:99830222-99830223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562365041	chr2:99830223-99830224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548257778	chr2:99830265-99830266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541152407	chr2:99830282-99830283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564270721	chr2:99830379-99830380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577815536	chr2:99830381-99830382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370611217	chr2:99830386-99830387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182024657	chr2:99830400-99830401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187098357	chr2:99830429-99830430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139320032	chr2:99830473-99830474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192063924	chr2:99830653-99830654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559100030	chr2:99830659-99830660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375878574	chr2:99830671-99830672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528121404	chr2:99830694-99830695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377211828	chr2:99830696-99830697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367682105	chr2:99830721-99830722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78347626	chr2:99830738-99830739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75690147	chr2:99830743-99830744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183378988	chr2:99830781-99830782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536171733	chr2:99830782-99830783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370531773	chr2:99830822-99830823	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186596201	chr2:99830831-99830832	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572328330	chr2:99830855-99830856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535066137	chr2:99830860-99830861	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs557822854	chr2:99830866-99830867	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577727561	chr2:99830901-99830902	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190989157	chr2:99830907-99830908	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149557873	chr2:99830946-99830947	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574237351	chr2:99830947-99830948	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99798600-99836400	Weak transcription	Small Intestine	intestine
2	chr2:99807000-99832600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:99814000-99834800	Weak transcription	Gastric	stomach
4	chr2:99814200-99832400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:99814400-99842200	Weak transcription	Ovary	ovary
6	chr2:99814400-99842800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:99814800-99840600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:99815000-99834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:99815000-99836400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:99815000-99840600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:99815000-99840800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:99815000-99841800	Weak transcription	Pancreas	Pancrea
13	chr2:99815000-99842400	Weak transcription	Fetal Lung	lung
14	chr2:99815200-99830400	Weak transcription	Brain Anterior Caudate	brain
15	chr2:99815200-99833200	Weak transcription	Lung	lung
16	chr2:99815200-99838400	Weak transcription	Adipose Nuclei	Adipose
17	chr2:99815200-99840600	Weak transcription	Aorta	Aorta
18	chr2:99815200-99841800	Weak transcription	Spleen	Spleen
19	chr2:99815200-99842000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:99815200-99842400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:99815400-99834400	Weak transcription	NHEK	skin
22	chr2:99815400-99834600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:99815600-99834400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:99815600-99834800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:99815600-99842000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:99815600-99842200	Weak transcription	Fetal Stomach	stomach
27	chr2:99815600-99843400	Weak transcription	Fetal Brain Female	brain
28	chr2:99818200-99854600	Weak transcription	Left Ventricle	heart
29	chr2:99818400-99830400	Weak transcription	A549	lung
30	chr2:99818400-99836400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:99818600-99842200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:99818800-99843600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:99819000-99843200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:99822200-99830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:99823200-99830800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:99825200-99843200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:99825400-99841800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:99826400-99834400	Weak transcription	Fetal Intestine Small	intestine
39	chr2:99827600-99832600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:99827600-99842800	Weak transcription	Fetal Brain Male	brain
41	chr2:99828000-99837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:99828200-99832000	Weak transcription	Brain Germinal Matrix	brain
43	chr2:99828200-99835600	Weak transcription	HepG2	liver
44	chr2:99828600-99839400	Weak transcription	Primary T cells from cord blood	blood
45	chr2:99829600-99844400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:99830000-99830600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:99830400-99830800	Strong transcription	A549	lung
48	chr2:99830400-99831400	Strong transcription	Brain Anterior Caudate	brain
49	chr2:99830400-99834400	Weak transcription	Dnd41	blood
50	chr2:99830600-99832000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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