Variant report

Variant	esv3331665
Chromosome Location	chr2:97732025-97734823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56678113	chr2:97732030-97732031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182107676	chr2:97732059-97732060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527643659	chr2:97732067-97732068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187632803	chr2:97732072-97732073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527711083	chr2:97732123-97732124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570803008	chr2:97732129-97732130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546176339	chr2:97732139-97732140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372444581	chr2:97732140-97732141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1148581	chr2:97732152-97732153	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs372955824	chr2:97732194-97732195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550331919	chr2:97732198-97732199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376973166	chr2:97732200-97732201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569053008	chr2:97732219-97732220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538061546	chr2:97732226-97732227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141396223	chr2:97732227-97732228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574686312	chr2:97732233-97732234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115059376	chr2:97732343-97732344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533510827	chr2:97732441-97732442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115955021	chr2:97732489-97732490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576806857	chr2:97732498-97732499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373404208	chr2:97732624-97732625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562263290	chr2:97732639-97732640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113274049	chr2:97732717-97732718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193246541	chr2:97732726-97732727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2443829	chr2:97732729-97732730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542025049	chr2:97732732-97732733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78459140	chr2:97732751-97732752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113197708	chr2:97732752-97732753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2443828	chr2:97732762-97732763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2443827	chr2:97732770-97732771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79843497	chr2:97732785-97732786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562196277	chr2:97732786-97732787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75165896	chr2:97732788-97732789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78676202	chr2:97732812-97732813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112928392	chr2:97732821-97732822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3028097	chr2:97732822-97732823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35326451	chr2:97732823-97732824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58986769	chr2:97732825-97732826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146139242	chr2:97732826-97732827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527983231	chr2:97732867-97732868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79634170	chr2:97732872-97732873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77903986	chr2:97732900-97732901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77646349	chr2:97732911-97732912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547815057	chr2:97732912-97732913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144002938	chr2:97732950-97732951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371320483	chr2:97732990-97732991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550271500	chr2:97732995-97732996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62155534	chr2:97733022-97733023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570178571	chr2:97733057-97733058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537998301	chr2:97733098-97733099	Weak transcription Enhancers	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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97731800-97732200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97732000-97732200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:97732200-97733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:97732200-97733400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97732600-97734800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:97733200-97733800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:97733200-97734000	ZNF genes & repeats	Gastric	stomach
8	chr2:97733200-97734200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:97733400-97733800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr2:97733400-97734000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:97733400-97734000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:97733600-97733800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr2:97733600-97734000	Enhancers	Brain Germinal Matrix	brain
14	chr2:97733800-97734000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:97733800-97734200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:97734200-97738600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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