Variant report

Variant	esv1846406
Chromosome Location	chr4:96599084-96664321
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	chr4:96614781..96615424-chr4:97273090..97273698,2	MCF-7	breast:

Extended variants
information (count: 1646 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1646 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369074724	chr4:96602229-96602230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115723679	chr4:96602236-96602237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2196514	chr4:96602295-96602296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75650372	chr4:96602336-96602337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544734648	chr4:96602337-96602338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568202672	chr4:96602357-96602358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369397157	chr4:96602362-96602363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1118570	chr4:96602391-96602392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs193000443	chr4:96602417-96602418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1118569	chr4:96602426-96602427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372987836	chr4:96602469-96602470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540951690	chr4:96602482-96602483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575327312	chr4:96602485-96602486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185211242	chr4:96602514-96602515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560181479	chr4:96602521-96602522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34716030	chr4:96602551-96602552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529224093	chr4:96602552-96602553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548746734	chr4:96602646-96602647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565424506	chr4:96602651-96602652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114107218	chr4:96602702-96602703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551067927	chr4:96602708-96602709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138599965	chr4:96602724-96602725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558288449	chr4:96602727-96602728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573359078	chr4:96602789-96602790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533549547	chr4:96602807-96602808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368694569	chr4:96602832-96602833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553770101	chr4:96602833-96602834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1595202	chr4:96602854-96602855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369343416	chr4:96602855-96602856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55944112	chr4:96602861-96602862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370858904	chr4:96602878-96602879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573681743	chr4:96602946-96602947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142867497	chr4:96602959-96602960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114072622	chr4:96602964-96602965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189681529	chr4:96603040-96603041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376586338	chr4:96603049-96603050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544227161	chr4:96603136-96603137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560564459	chr4:96603137-96603138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529145226	chr4:96603145-96603146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141016445	chr4:96603171-96603172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78148787	chr4:96603260-96603261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181342616	chr4:96603264-96603265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531403976	chr4:96603287-96603288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551209404	chr4:96603291-96603292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6822198	chr4:96603321-96603322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs199761836	chr4:96603353-96603354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143283000	chr4:96603354-96603355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527414876	chr4:96603359-96603360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60540077	chr4:96603362-96603363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532580147	chr4:96603377-96603378	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96602200-96604200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:96602800-96603400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:96602800-96603400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:96610600-96610800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:96610600-96611000	Enhancers	Right Atrium	heart
6	chr4:96613000-96613600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:96615000-96616800	Enhancers	HUVEC	blood vessel
8	chr4:96616800-96622200	Weak transcription	HUVEC	blood vessel
9	chr4:96617800-96618400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:96618400-96618800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr4:96619200-96620800	Enhancers	Dnd41	blood
12	chr4:96621000-96622600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:96622000-96622400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr4:96622200-96622400	Enhancers	Ovary	ovary
15	chr4:96622200-96622600	Enhancers	HSMMtube	muscle
16	chr4:96622200-96623600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:96622200-96623600	Enhancers	HUVEC	blood vessel
18	chr4:96622400-96622600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:96622400-96623400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:96622400-96623600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:96622400-96623600	Enhancers	HSMM	muscle
22	chr4:96622600-96622800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:96622600-96623200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:96622600-96623600	Enhancers	HMEC	breast
25	chr4:96622600-96623800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:96622800-96623200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr4:96622800-96623200	Enhancers	NH-A	brain
28	chr4:96622800-96623400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:96622800-96623400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:96623000-96623200	Enhancers	Ovary	ovary
31	chr4:96623000-96623400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr4:96623000-96623400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:96623000-96623400	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:96623200-96623600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:96623200-96623600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:96623800-96628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:96628000-96628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:96628200-96628400	Enhancers	Aorta	Aorta
39	chr4:96628200-96629000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:96629000-96629200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:96632800-96636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:96635000-96636600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:96636400-96637600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:96636600-96637400	Enhancers	HMEC	breast
45	chr4:96636800-96637400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:96637000-96637600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr4:96637400-96638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:96638400-96638600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:96647400-96647600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:96647400-96648200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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