Variant report

Variant	esv3488564
Chromosome Location	chr4:81529978-81537076
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	chr4:81519146..81521026-chr4:81528690..81531037,2	MCF-7	breast:

Extended variants
information (count: 236 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:236 , 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	rs549362764	chr4:81530009-81530010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371047220	chr4:81530011-81530012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562867841	chr4:81530015-81530016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71876747	chr4:81530016-81530017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528008453	chr4:81530017-81530018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200149344	chr4:81530019-81530020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199648599	chr4:81530041-81530042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200274431	chr4:81530053-81530054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73832427	chr4:81530057-81530058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571888984	chr4:81530079-81530080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537612421	chr4:81530124-81530125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377738879	chr4:81530153-81530154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184206820	chr4:81530217-81530218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72863166	chr4:81530242-81530243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73832428	chr4:81530264-81530265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572498903	chr4:81530292-81530293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536368344	chr4:81530293-81530294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544643066	chr4:81530323-81530324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564794634	chr4:81530331-81530332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189661534	chr4:81530379-81530380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544362126	chr4:81530383-81530384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4693510	chr4:81530405-81530406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529928427	chr4:81530432-81530433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538215338	chr4:81530501-81530502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559926312	chr4:81530508-81530509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528491298	chr4:81530571-81530572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563388328	chr4:81530576-81530577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530567553	chr4:81530579-81530580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537357889	chr4:81530604-81530605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551124084	chr4:81530606-81530607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558521095	chr4:81530639-81530640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536492176	chr4:81530776-81530777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552650813	chr4:81530783-81530784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148109499	chr4:81530809-81530810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538208260	chr4:81530823-81530824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558285699	chr4:81530873-81530874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371779627	chr4:81530875-81530876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575469208	chr4:81530921-81530922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12639967	chr4:81530951-81530952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554883531	chr4:81530953-81530954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76035035	chr4:81531052-81531053	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540478725	chr4:81531057-81531058	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368025750	chr4:81531061-81531062	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115251247	chr4:81531102-81531103	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192996031	chr4:81531162-81531163	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112567294	chr4:81531179-81531180	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532047871	chr4:81531222-81531223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545384867	chr4:81531262-81531263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565155749	chr4:81531304-81531305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398051205	chr4:81531354-81531355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81529000-81530600	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:81529000-81530600	Enhancers	NHDF-Ad	bronchial
3	chr4:81529400-81530200	Enhancers	Fetal Intestine Large	intestine
4	chr4:81529400-81530400	Enhancers	Osteobl	bone
5	chr4:81529400-81530600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:81529400-81530600	Enhancers	Colon Smooth Muscle	Colon
7	chr4:81529600-81530600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:81530200-81530400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr4:81530200-81531400	Weak transcription	Fetal Intestine Large	intestine
10	chr4:81530400-81531600	Weak transcription	Osteobl	bone
11	chr4:81530600-81531000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:81530600-81532000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:81530800-81531000	Enhancers	Primary B cells from cord blood	blood
14	chr4:81531000-81531200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr4:81531000-81531200	Enhancers	Colon Smooth Muscle	Colon
16	chr4:81531200-81531600	Enhancers	Primary B cells from cord blood	blood
17	chr4:81531200-81532400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:81531200-81533200	Enhancers	Primary B cells from peripheral blood	blood
19	chr4:81531400-81532800	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:81531400-81533200	Enhancers	Fetal Intestine Large	intestine
21	chr4:81531400-81533200	Enhancers	Fetal Intestine Small	intestine
22	chr4:81531400-81533200	Enhancers	GM12878-XiMat	blood
23	chr4:81531400-81535000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr4:81531600-81532200	Enhancers	Osteobl	bone
25	chr4:81531600-81533000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr4:81532000-81532400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:81532000-81532400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:81532000-81532400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:81532000-81532400	Enhancers	Stomach Mucosa	stomach
30	chr4:81532000-81532400	Enhancers	NHDF-Ad	bronchial
31	chr4:81532000-81532800	Enhancers	Primary T cells from cord blood	blood
32	chr4:81532000-81532800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:81532000-81532800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr4:81532000-81533000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:81532200-81532400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:81532200-81533000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:81532400-81532800	Enhancers	Colon Smooth Muscle	Colon
38	chr4:81532400-81532800	Weak transcription	Stomach Mucosa	stomach
39	chr4:81532800-81533000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr4:81532800-81533000	Enhancers	Stomach Mucosa	stomach
41	chr4:81532800-81533200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr4:81533000-81533600	Enhancers	Primary B cells from cord blood	blood
43	chr4:81533000-81534200	Weak transcription	Stomach Mucosa	stomach
44	chr4:81533000-81534400	Enhancers	Duodenum Mucosa	Duodenum
45	chr4:81533200-81534000	Weak transcription	Fetal Intestine Small	intestine
46	chr4:81533200-81536800	Weak transcription	Fetal Intestine Large	intestine
47	chr4:81534000-81535000	Enhancers	Fetal Intestine Small	intestine
48	chr4:81534200-81535800	Enhancers	Stomach Mucosa	stomach
49	chr4:81534600-81535000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:81534600-81536000	Enhancers	HUES48 Cell Line	embryonic stem cell

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