Variant report

Variant	nsv966530
Chromosome Location	chr4:93006531-93034521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:93022151..93024082-chr4:93025859..93028241,2	MCF-7	breast:
2	chr4:93022151..93024082-chr4:93025859..93028241,2	MCF-7	breast:
3	chr4:93027385..93029729-chr4:93033798..93036678,2	K562	blood:
4	chr4:93027385..93029729-chr4:93033798..93036678,2	K562	blood:

Extended variants
information (count: 615 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28613083	chr4:93008400-93008401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548106490	chr4:93008401-93008402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141440984	chr4:93008425-93008426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536607628	chr4:93008430-93008431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556631830	chr4:93008445-93008446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562307578	chr4:93008478-93008479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576429340	chr4:93008579-93008580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7438083	chr4:93008611-93008612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539097968	chr4:93008624-93008625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185787762	chr4:93008627-93008628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78922734	chr4:93008640-93008641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528979497	chr4:93008654-93008655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549104600	chr4:93008674-93008675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200964269	chr4:93008795-93008796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375918826	chr4:93008824-93008825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565667191	chr4:93008837-93008838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145152869	chr4:93008843-93008844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145826462	chr4:93008934-93008935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114526387	chr4:93009001-93009002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531341769	chr4:93009051-93009052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569651985	chr4:93009062-93009063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62312330	chr4:93009103-93009104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552219853	chr4:93009140-93009141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10032505	chr4:93009187-93009188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372343773	chr4:93009192-93009193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75510354	chr4:93009193-93009194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10022297	chr4:93009241-93009242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189715701	chr4:93009249-93009250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10010592	chr4:93009255-93009256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549933828	chr4:93009274-93009275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570015275	chr4:93009288-93009289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538794711	chr4:93009302-93009303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143743487	chr4:93009402-93009403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571121171	chr4:93009440-93009441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182620740	chr4:93009471-93009472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553673723	chr4:93009476-93009477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573628068	chr4:93009481-93009482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535539453	chr4:93009495-93009496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542893482	chr4:93009532-93009533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113503348	chr4:93009612-93009613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188880614	chr4:93009616-93009617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35319571	chr4:93009622-93009623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148009112	chr4:93009635-93009636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377397408	chr4:93009663-93009664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544780037	chr4:93009681-93009682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373561451	chr4:93009687-93009688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193095568	chr4:93009709-93009710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374923071	chr4:93009733-93009734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527902394	chr4:93009751-93009752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572871296	chr4:93009772-93009773	Enhancers Weak transcription	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
Cancer	19907438	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93008400-93009800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:93008600-93009400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:93008600-93009400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:93008600-93009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:93008600-93009800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr4:93008600-93009800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:93009000-93009400	Enhancers	Brain Germinal Matrix	brain
8	chr4:93009000-93009600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:93009200-93009600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:93009400-93012800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:93009800-93012400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:93010600-93011800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:93011400-93012600	Active TSS	K562	blood
14	chr4:93012200-93012600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:93012200-93012600	Active TSS	Liver	Liver
16	chr4:93012400-93013200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:93012800-93013200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:93016200-93017800	Enhancers	Brain Germinal Matrix	brain
19	chr4:93020400-93023400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:93020800-93021400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:93020800-93023400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:93021000-93021600	Enhancers	Adipose Nuclei	Adipose
23	chr4:93021200-93021400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:93021200-93021400	Enhancers	Esophagus	oesophagus
25	chr4:93021400-93021800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:93021600-93022800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:93021600-93023400	Weak transcription	Adipose Nuclei	Adipose
28	chr4:93021800-93024000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:93022200-93022400	Enhancers	Esophagus	oesophagus
30	chr4:93022200-93022600	Enhancers	Stomach Mucosa	stomach
31	chr4:93022200-93023400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:93022200-93023400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:93022200-93023800	Enhancers	Hela-S3	cervix
34	chr4:93022200-93024800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr4:93022800-93023800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:93023400-93023800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:93023400-93023800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:93023400-93023800	Enhancers	Adipose Nuclei	Adipose
39	chr4:93023600-93023800	Enhancers	Esophagus	oesophagus
40	chr4:93023800-93024200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:93023800-93027400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:93024400-93024800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:93024800-93025200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:93025200-93025600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr4:93025800-93026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:93027400-93027600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:93027600-93028000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:93028000-93028600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:93030200-93030400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:93030200-93031400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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