Variant report

Variant	esv3331079
Chromosome Location	chr4:92544367-92548440
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	chr4:92539576..92542400-chr4:92543063..92544579,2	MCF-7	breast:

Extended variants
information (count: 345 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:345 , 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	rs144497388	chr4:92544376-92544377	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562803211	chr4:92544382-92544383	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531301007	chr4:92544389-92544390	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11947273	chr4:92544404-92544405	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs28676799	chr4:92544408-92544409	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527386283	chr4:92544429-92544430	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547517841	chr4:92544440-92544441	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567500100	chr4:92544456-92544457	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536484083	chr4:92544461-92544462	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149197120	chr4:92544481-92544482	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112535374	chr4:92544498-92544499	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570038612	chr4:92544595-92544596	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538979269	chr4:92544639-92544640	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558692734	chr4:92544678-92544679	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572441575	chr4:92544703-92544704	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534803646	chr4:92544712-92544713	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555126512	chr4:92544737-92544738	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573863538	chr4:92544749-92544750	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs57981859	chr4:92544759-92544760	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562742896	chr4:92544767-92544768	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs6835539	chr4:92544787-92544788	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190988437	chr4:92544797-92544798	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564724266	chr4:92544828-92544829	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530996360	chr4:92544847-92544848	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369191254	chr4:92544882-92544883	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143323355	chr4:92544908-92544909	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs151171720	chr4:92544929-92544930	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564612469	chr4:92544946-92544947	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532083208	chr4:92544948-92544949	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141182553	chr4:92544974-92544975	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183208503	chr4:92545012-92545013	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375964055	chr4:92545015-92545016	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201467563	chr4:92545024-92545025	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146942489	chr4:92545026-92545027	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536269647	chr4:92545039-92545040	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188266560	chr4:92545041-92545042	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548168790	chr4:92545054-92545055	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192549821	chr4:92545075-92545076	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371717885	chr4:92545083-92545084	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575007630	chr4:92545113-92545114	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536404282	chr4:92545114-92545115	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556401849	chr4:92545128-92545129	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537213858	chr4:92545135-92545136	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182927107	chr4:92545136-92545137	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374954629	chr4:92545144-92545145	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373824535	chr4:92545149-92545150	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550764030	chr4:92545151-92545152	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540649596	chr4:92545162-92545163	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560604000	chr4:92545176-92545177	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529751593	chr4:92545180-92545181	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92533600-92545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:92543600-92544400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:92543600-92544600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:92544000-92544400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:92544000-92544600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:92544000-92544600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:92544000-92544800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:92544000-92544800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr4:92544200-92544400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:92544200-92544400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:92544200-92544400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
12	chr4:92544200-92544400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:92544200-92544400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:92544200-92544600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:92544400-92544600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:92544400-92544600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:92544400-92544800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:92544400-92544800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:92544400-92548600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:92544600-92544800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr4:92544600-92545000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:92544600-92546200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr4:92544600-92546800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:92544600-92548000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:92544600-92548600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:92544600-92549000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr4:92544800-92545000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:92544800-92545200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:92544800-92546800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr4:92544800-92548000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:92544800-92548400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr4:92545000-92547600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr4:92545000-92548800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:92545200-92548000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:92545600-92546800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:92546200-92546800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
37	chr4:92546800-92547600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:92546800-92548600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:92546800-92548600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr4:92546800-92552600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:92547600-92548000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
42	chr4:92547600-92548000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr4:92548000-92548200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
44	chr4:92548000-92548600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:92548000-92548600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr4:92548000-92549800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:92548000-92550800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:92548200-92549000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:92548400-92548800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell

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