Variant report

Variant	esv10146
Chromosome Location	chr2:64296201-64303419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 349 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140737548	chr2:64296221-64296222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542615741	chr2:64296363-64296364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560761515	chr2:64296386-64296387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572872866	chr2:64296442-64296443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144391588	chr2:64296498-64296499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564093729	chr2:64296538-64296539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191229856	chr2:64296543-64296544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551656208	chr2:64296588-64296589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13395129	chr2:64296598-64296599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530870380	chr2:64296664-64296665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13395054	chr2:64296696-64296697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567372009	chr2:64296716-64296717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376607973	chr2:64296727-64296728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183412281	chr2:64296729-64296730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546502730	chr2:64296744-64296745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571177734	chr2:64296759-64296760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567850629	chr2:64296760-64296761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187768049	chr2:64296795-64296796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573197913	chr2:64296805-64296806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76827544	chr2:64296845-64296846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556241253	chr2:64296855-64296856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72808296	chr2:64296897-64296898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554682493	chr2:64296923-64296924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143294825	chr2:64296928-64296929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540200748	chr2:64296970-64296971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560111575	chr2:64297007-64297008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148290112	chr2:64297010-64297011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545593788	chr2:64297032-64297033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140434682	chr2:64297042-64297043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531132951	chr2:64297048-64297049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544583735	chr2:64297107-64297108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111878116	chr2:64297110-64297111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549241262	chr2:64297149-64297150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544137533	chr2:64297153-64297154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147045072	chr2:64297154-64297155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138917276	chr2:64297155-64297156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572002631	chr2:64297157-64297158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62138469	chr2:64297164-64297165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192256639	chr2:64297167-64297168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185403781	chr2:64297175-64297176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11890348	chr2:64297176-64297177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550848055	chr2:64297182-64297183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142941460	chr2:64297214-64297215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373123858	chr2:64297242-64297243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375613743	chr2:64297246-64297247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189929887	chr2:64297263-64297264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560874624	chr2:64297286-64297287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529913855	chr2:64297306-64297307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371449545	chr2:64297307-64297308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373221555	chr2:64297312-64297313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64293400-64300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:64293800-64299200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:64293800-64300200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:64294400-64298800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:64294800-64299400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:64294800-64300400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:64294800-64301200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:64294800-64301600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:64294800-64301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:64295000-64298800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:64295000-64299000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:64295000-64299200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:64298800-64299600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:64298800-64299600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:64299000-64301400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:64299200-64299800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:64299200-64300400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:64299400-64299800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:64299600-64300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:64299600-64303200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:64299800-64300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:64299800-64300400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:64300000-64302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:64300200-64300400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:64300400-64300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:64300400-64300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:64300400-64302200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:64300400-64303400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:64300600-64300800	Enhancers	Small Intestine	intestine
30	chr2:64300600-64303200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:64300800-64301000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:64300800-64301400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:64300800-64302000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:64301000-64301400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:64301000-64301400	Enhancers	Fetal Intestine Small	intestine
36	chr2:64301000-64302000	Enhancers	Fetal Intestine Large	intestine
37	chr2:64301000-64305400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:64301200-64302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:64301400-64302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:64301400-64303600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:64301400-64305600	Weak transcription	Fetal Intestine Small	intestine
42	chr2:64301800-64302800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:64301800-64303000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:64302000-64302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
46	chr2:64302200-64305200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:64302800-64303400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:64302800-64303800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:64303200-64303400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:64303200-64303600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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