Variant report

Variant	esv3467023
Chromosome Location	chr4:19734943-19739840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:19727412..19729321-chr4:19735954..19738022,2	MCF-7	breast:

Extended variants
information (count: 221 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187811260	chr4:19734952-19734953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372212673	chr4:19734965-19734966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574817977	chr4:19734971-19734972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376491495	chr4:19735004-19735005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140284032	chr4:19735021-19735022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560588025	chr4:19735041-19735042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577698921	chr4:19735076-19735077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576964430	chr4:19735086-19735087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575296256	chr4:19735087-19735088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192198768	chr4:19735096-19735097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373336984	chr4:19735106-19735107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565111212	chr4:19735108-19735109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199935617	chr4:19735110-19735111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532426067	chr4:19735114-19735115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13148092	chr4:19735121-19735122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369928177	chr4:19735127-19735128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562334373	chr4:19735130-19735131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529651268	chr4:19735141-19735142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547877776	chr4:19735149-19735150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566531031	chr4:19735166-19735167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533654522	chr4:19735203-19735204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62295091	chr4:19735205-19735206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570760695	chr4:19735206-19735207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538142370	chr4:19735296-19735297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184917363	chr4:19735301-19735302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575036922	chr4:19735303-19735304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535814499	chr4:19735310-19735311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541805482	chr4:19735316-19735317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553895546	chr4:19735351-19735352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572487378	chr4:19735361-19735362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561638166	chr4:19735365-19735366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565070338	chr4:19735378-19735379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577149446	chr4:19735400-19735401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544427837	chr4:19735428-19735429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562754935	chr4:19735461-19735462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529964529	chr4:19735500-19735501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548131758	chr4:19735523-19735524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559925470	chr4:19735540-19735541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527384962	chr4:19735576-19735577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551896432	chr4:19735580-19735581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570223058	chr4:19735592-19735593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538004892	chr4:19735638-19735639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550130679	chr4:19735642-19735643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530626669	chr4:19735656-19735657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551018641	chr4:19735704-19735705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569556877	chr4:19735705-19735706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140849442	chr4:19735707-19735708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535806176	chr4:19735724-19735725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554115062	chr4:19735761-19735762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572518788	chr4:19735817-19735818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19732400-19736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:19736400-19736800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:19736400-19737000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:19736600-19737400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:19736800-19737200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:19737000-19737200	Enhancers	Hela-S3	cervix
7	chr4:19737000-19740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:19737200-19740600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:19737400-19738600	Weak transcription	Hela-S3	cervix
10	chr4:19737400-19749600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:19738600-19740400	Weak transcription	Osteobl	bone
12	chr4:19738600-19740600	Enhancers	Hela-S3	cervix
13	chr4:19738800-19739400	Enhancers	Fetal Kidney	kidney
14	chr4:19738800-19739600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:19739000-19739200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:19739000-19739600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:19739200-19739400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:19739200-19740600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:19739200-19740600	Enhancers	HUVEC	blood vessel
20	chr4:19739400-19740400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:19739400-19740400	Weak transcription	Fetal Kidney	kidney
22	chr4:19739600-19740600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:19739600-19740600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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