Variant report

Variant	esv12109
Chromosome Location	chr2:97733027-97734143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570178571	chr2:97733057-97733058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537998301	chr2:97733098-97733099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62155535	chr2:97733115-97733116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548409933	chr2:97733183-97733184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62155536	chr2:97733203-97733204	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568213658	chr2:97733244-97733245	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534087214	chr2:97733269-97733270	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79530734	chr2:97733295-97733296	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553818150	chr2:97733300-97733301	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576742285	chr2:97733302-97733303	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72945135	chr2:97733318-97733319	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539060505	chr2:97733322-97733323	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1148580	chr2:97733335-97733336	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs575732955	chr2:97733339-97733340	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368023801	chr2:97733340-97733341	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541570683	chr2:97733363-97733364	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562299042	chr2:97733371-97733372	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62155537	chr2:97733384-97733385	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572585113	chr2:97733417-97733418	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs62155538	chr2:97733429-97733430	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs541688149	chr2:97733452-97733453	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs369755950	chr2:97733454-97733455	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs62155539	chr2:97733470-97733471	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs117052612	chr2:97733514-97733515	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs550208135	chr2:97733520-97733521	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs62155540	chr2:97733524-97733525	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs77981723	chr2:97733602-97733603	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386648407	chr2:97733606-97733607	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77295427	chr2:97733608-97733609	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188562693	chr2:97733609-97733610	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75178649	chr2:97733620-97733621	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75297061	chr2:97733626-97733627	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527524569	chr2:97733645-97733646	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79018181	chr2:97733651-97733652	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78914710	chr2:97733672-97733673	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75348557	chr2:97733685-97733686	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72945138	chr2:97733777-97733778	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547633955	chr2:97733780-97733781	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75040231	chr2:97733791-97733792	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570662839	chr2:97733794-97733795	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147569019	chr2:97733799-97733800	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78591305	chr2:97733802-97733803	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77043195	chr2:97733803-97733804	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555736084	chr2:97733804-97733805	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569351724	chr2:97733805-97733806	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567021539	chr2:97733809-97733810	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535161656	chr2:97733812-97733813	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555198711	chr2:97733813-97733814	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7579159	chr2:97733818-97733819	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77797608	chr2:97733825-97733826	ZNF genes & repeats Bivalent Enhancer 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:13 , 50 per page) page: 1

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

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