Variant report

Variant	nsv961835
Chromosome Location	chr2:97726182-97732721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139360400	chr2:97731843-97731844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201118899	chr2:97731852-97731853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560352184	chr2:97731854-97731855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199647438	chr2:97731863-97731864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574324516	chr2:97731876-97731877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182621125	chr2:97731885-97731886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114011318	chr2:97731887-97731888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532239726	chr2:97731915-97731916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150025205	chr2:97731918-97731919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562735526	chr2:97731957-97731958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531814027	chr2:97731968-97731969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187046507	chr2:97731997-97731998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56678113	chr2:97732030-97732031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182107676	chr2:97732059-97732060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527643659	chr2:97732067-97732068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187632803	chr2:97732072-97732073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527711083	chr2:97732123-97732124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570803008	chr2:97732129-97732130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546176339	chr2:97732139-97732140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372444581	chr2:97732140-97732141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1148581	chr2:97732152-97732153	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs372955824	chr2:97732194-97732195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550331919	chr2:97732198-97732199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376973166	chr2:97732200-97732201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569053008	chr2:97732219-97732220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538061546	chr2:97732226-97732227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141396223	chr2:97732227-97732228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574686312	chr2:97732233-97732234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115059376	chr2:97732343-97732344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533510827	chr2:97732441-97732442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115955021	chr2:97732489-97732490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576806857	chr2:97732498-97732499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373404208	chr2:97732624-97732625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562263290	chr2:97732639-97732640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113274049	chr2:97732717-97732718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97725400-97726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:97725800-97726200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:97725800-97726200	Enhancers	Ovary	ovary
4	chr2:97731800-97732200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97732000-97732200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:97732200-97733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:97732200-97733400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97732600-97734800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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