Variant report

Variant	esv2763342
Chromosome Location	chr4:16413300-16430564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16409590..16411758-chr4:16414173..16416975,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD38-3	chr4:16427988-16428063	ENSG00000248138.1
2	lnc-CD38-3	chr4:16422683-16422756	ENSG00000248138.1
3	lnc-CD38-3	chr4:16427988-16428063	ENSG00000248138.1
4	lnc-CD38-3	chr4:16427988-16428063	NONHSAT095690
5	lnc-CD38-3	chr4:16422683-16422756	NONHSAT095690

No data

Extended variants
information (count: 364 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11939904	chr4:16413300-16413301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141531600	chr4:16413314-16413315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527326876	chr4:16413330-16413331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571986038	chr4:16413375-16413376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78258416	chr4:16413376-16413377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147047482	chr4:16413500-16413501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541048618	chr4:16413541-16413542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73798748	chr4:16413602-16413603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35316321	chr4:16413639-16413640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561300652	chr4:16413737-16413738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201843450	chr4:16413758-16413759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs33918915	chr4:16413759-16413760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376540444	chr4:16413763-16413764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71649951	chr4:16413774-16413775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398063314	chr4:16413791-16413792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62298845	chr4:16413796-16413797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181032830	chr4:16413797-16413798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531988541	chr4:16413800-16413801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551836712	chr4:16413842-16413843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563622590	chr4:16413949-16413950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6844661	chr4:16413998-16413999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554228001	chr4:16414000-16414001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138203189	chr4:16414019-16414020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536751195	chr4:16414115-16414116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556276257	chr4:16414119-16414120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372536784	chr4:16414155-16414156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149099984	chr4:16414176-16414177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6822901	chr4:16414183-16414184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372917287	chr4:16414247-16414248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148236859	chr4:16414254-16414255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571686027	chr4:16414255-16414256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187111092	chr4:16414287-16414288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6449242	chr4:16414292-16414293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547088398	chr4:16414302-16414303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529700245	chr4:16414318-16414319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191075623	chr4:16414334-16414335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150738497	chr4:16414335-16414336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373058940	chr4:16414347-16414348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181539541	chr4:16414351-16414352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552036998	chr4:16414368-16414369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539598000	chr4:16414384-16414385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565548113	chr4:16414450-16414451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528005513	chr4:16414453-16414454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547769954	chr4:16414500-16414501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567665554	chr4:16414506-16414507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536740935	chr4:16414526-16414527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77718693	chr4:16414538-16414539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569816439	chr4:16414549-16414550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538484456	chr4:16414575-16414576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142341664	chr4:16414640-16414641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	21509527	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	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16413000-16413600	Enhancers	Fetal Stomach	stomach
2	chr4:16413200-16413400	Enhancers	Fetal Kidney	kidney
3	chr4:16413400-16417200	Weak transcription	Fetal Kidney	kidney
4	chr4:16413600-16414600	Weak transcription	Fetal Stomach	stomach
5	chr4:16414800-16415000	Enhancers	Fetal Stomach	stomach
6	chr4:16417200-16418600	Enhancers	Fetal Kidney	kidney
7	chr4:16418200-16421200	Enhancers	HUVEC	blood vessel
8	chr4:16419400-16419600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:16419600-16420600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:16419600-16421000	Enhancers	NHEK	skin
11	chr4:16420600-16421400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:16420800-16421000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:16429800-16435200	Weak transcription	Fetal Brain Male	brain

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