Variant report

Variant	esv1805338
Chromosome Location	chr2:34675455-34738020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
2	chr17:57969237..57970939-chr2:34675539..34678526,2	MCF-7	breast:
3	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
4	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033

Variant related genes	Relation type
ENSG00000108423	chromatin interactions
ENSG00000108443	chromatin interactions

Extended variants
information (count: 1398 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528662693	chr2:34675548-34675549	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111643162	chr2:34675581-34675582	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114046366	chr2:34675614-34675615	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188576106	chr2:34675633-34675634	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs530917975	chr2:34675639-34675640	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575193495	chr2:34675675-34675676	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs193137776	chr2:34675680-34675681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs72788773	chr2:34675681-34675682	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539979444	chr2:34675686-34675687	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143088286	chr2:34675695-34675696	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185761686	chr2:34675697-34675698	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190281715	chr2:34675705-34675706	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535670004	chr2:34675710-34675711	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555667585	chr2:34675720-34675721	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373815882	chr2:34675777-34675778	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564204491	chr2:34675828-34675829	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528599207	chr2:34675834-34675835	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575487430	chr2:34675902-34675903	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs180920864	chr2:34675950-34675951	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183742238	chr2:34675957-34675958	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115675598	chr2:34675972-34675973	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs577572244	chr2:34675980-34675981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs537590317	chr2:34676018-34676019	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141153492	chr2:34676028-34676029	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559835229	chr2:34676071-34676072	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150731690	chr2:34676085-34676086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542051370	chr2:34676091-34676092	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552494010	chr2:34676110-34676111	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs562384861	chr2:34676111-34676112	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188854866	chr2:34676115-34676116	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550944233	chr2:34676141-34676142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139761983	chr2:34676148-34676149	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143763411	chr2:34676155-34676156	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547089141	chr2:34676175-34676176	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147186356	chr2:34676176-34676177	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548550787	chr2:34676207-34676208	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535631714	chr2:34676222-34676223	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs548937119	chr2:34676239-34676240	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs77303213	chr2:34676256-34676257	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537706391	chr2:34676259-34676260	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558032954	chr2:34676273-34676274	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112344783	chr2:34676291-34676292	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181174089	chr2:34676312-34676313	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533556181	chr2:34676314-34676315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1117717	chr2:34676353-34676354	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186216945	chr2:34676361-34676362	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537005931	chr2:34676402-34676403	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs76394350	chr2:34676464-34676465	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114545899	chr2:34676487-34676488	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs575804650	chr2:34676556-34676557	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34677000-34683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:34681600-34684200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:34682800-34685400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34683600-34684400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:34683800-34684800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:34683800-34685600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:34684200-34684400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr2:34689000-34689800	Enhancers	Fetal Lung	lung
9	chr2:34691400-34691600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:34691800-34692400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:34699800-34700600	Enhancers	Fetal Kidney	kidney
12	chr2:34700600-34711800	Weak transcription	Fetal Kidney	kidney
13	chr2:34702600-34703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:34703400-34706000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:34706000-34706200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:34706200-34708000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:34708000-34708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:34711000-34712800	Enhancers	Fetal Intestine Large	intestine
19	chr2:34711800-34712200	Enhancers	Fetal Kidney	kidney
20	chr2:34712000-34713000	Enhancers	Fetal Lung	lung
21	chr2:34712800-34717800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:34713000-34714600	Weak transcription	Fetal Lung	lung
23	chr2:34714600-34715000	Enhancers	Fetal Lung	lung
24	chr2:34715000-34716600	Weak transcription	Fetal Lung	lung
25	chr2:34716600-34717200	Enhancers	Fetal Lung	lung
26	chr2:34717200-34717600	Weak transcription	Fetal Lung	lung
27	chr2:34717600-34717800	Enhancers	Fetal Lung	lung
28	chr2:34717800-34718000	Flanking Active TSS	Fetal Lung	lung
29	chr2:34717800-34718400	Enhancers	Fetal Intestine Large	intestine
30	chr2:34718000-34718200	Enhancers	Fetal Lung	lung
31	chr2:34718200-34718400	Flanking Active TSS	Fetal Lung	lung
32	chr2:34718400-34719000	Enhancers	Fetal Lung	lung
33	chr2:34719000-34720800	Weak transcription	Fetal Lung	lung
34	chr2:34720800-34721200	Enhancers	Fetal Lung	lung

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