Variant report

Variant	esv2760849
Chromosome Location	chr4:21372003-21386158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:21372485..21375089-chr4:21376184..21378296,2	K562	blood:
2	chr4:21373360..21375651-chr4:21376032..21378469,2	MCF-7	breast:
3	chr4:21373360..21375651-chr4:21376032..21378469,2	MCF-7	breast:
4	chr4:21372485..21375089-chr4:21376184..21378296,2	K562	blood:

Extended variants
information (count: 318 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:318 , 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	rs188405511	chr4:21378229-21378230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147719184	chr4:21378242-21378243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535705568	chr4:21378262-21378263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28478326	chr4:21378283-21378284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573201155	chr4:21378304-21378305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142580948	chr4:21378305-21378306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374908933	chr4:21378343-21378344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577240433	chr4:21378354-21378355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544419292	chr4:21378428-21378429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562703017	chr4:21378442-21378443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1495524	chr4:21378475-21378476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191735290	chr4:21378479-21378480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550020029	chr4:21378481-21378482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569003067	chr4:21378517-21378518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146787021	chr4:21378552-21378553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537619804	chr4:21378599-21378600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527333561	chr4:21378620-21378621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552127080	chr4:21378622-21378623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148961364	chr4:21378631-21378632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564046123	chr4:21378639-21378640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370235090	chr4:21378682-21378683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531400941	chr4:21378724-21378725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550008239	chr4:21378753-21378754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139302215	chr4:21378757-21378758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140624860	chr4:21378763-21378764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547754223	chr4:21378789-21378790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565949164	chr4:21378841-21378842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150078751	chr4:21378850-21378851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558877913	chr4:21378868-21378869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34050105	chr4:21378871-21378872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28520752	chr4:21378876-21378877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537903422	chr4:21378906-21378907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546694638	chr4:21378911-21378912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1390265	chr4:21378993-21378994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138409114	chr4:21378994-21378995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372899378	chr4:21379207-21379208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549947578	chr4:21379246-21379247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149265781	chr4:21379271-21379272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1495523	chr4:21379280-21379281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553754369	chr4:21379287-21379288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11732540	chr4:21379327-21379328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547546401	chr4:21379420-21379421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181966461	chr4:21379464-21379465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375995367	chr4:21379472-21379473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539680355	chr4:21379503-21379504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58153981	chr4:21379578-21379579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570873033	chr4:21379582-21379583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537841537	chr4:21379596-21379597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146225476	chr4:21379611-21379612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369188778	chr4:21379620-21379621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21378200-21379000	Enhancers	Fetal Brain Female	brain
2	chr4:21378800-21379000	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:21379200-21379400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:21379400-21379600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:21379400-21381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:21379600-21386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:21380800-21381000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:21381000-21381200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr4:21381000-21382400	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:21381200-21382200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:21381200-21383200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:21381400-21382800	Enhancers	Brain Hippocampus Middle	brain
13	chr4:21381800-21382400	Enhancers	Brain Substantia Nigra	brain
14	chr4:21382000-21382200	Enhancers	Brain Angular Gyrus	brain
15	chr4:21382000-21382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:21382200-21382400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr4:21382200-21382600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr4:21382400-21382600	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr4:21382400-21382800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:21382400-21382800	Active TSS	Brain Angular Gyrus	brain
21	chr4:21382400-21383000	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr4:21382600-21382800	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:21382600-21383000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr4:21382800-21383000	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr4:21382800-21383000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr4:21383000-21383400	Enhancers	Brain Angular Gyrus	brain
27	chr4:21383000-21383600	Enhancers	Brain Hippocampus Middle	brain
28	chr4:21383000-21383800	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:21383000-21383800	Enhancers	Brain Substantia Nigra	brain
30	chr4:21383000-21384000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:21386000-21387000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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