Variant report

Variant	nsv1013945
Chromosome Location	chr4:81410029-81454166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:81412527..81415093-chr4:81416583..81419281,3	K562	blood:
2	chr4:81418651..81421448-chr4:81433894..81436150,2	K562	blood:
3	chr4:81412527..81415093-chr4:81416891..81419281,2	K562	blood:
4	chr4:81429186..81431179-chr4:81432329..81435237,2	K562	blood:
5	chr4:81412527..81415093-chr4:81416583..81419281,3	K562	blood:
6	chr4:81418651..81421448-chr4:81433894..81436150,2	K562	blood:
7	chr4:81412527..81415093-chr4:81416891..81419281,2	K562	blood:
8	chr4:81429186..81431179-chr4:81432329..81435237,2	K562	blood:

No data

Extended variants
information (count: 1195 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183698152	chr4:81410034-81410035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142050300	chr4:81410038-81410039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539128532	chr4:81410040-81410041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536182196	chr4:81410079-81410080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370263383	chr4:81410099-81410100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185158817	chr4:81410136-81410137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62303531	chr4:81410141-81410142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552492123	chr4:81410142-81410143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535079338	chr4:81410165-81410166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557480431	chr4:81410168-81410169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147778003	chr4:81410258-81410259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578179120	chr4:81410264-81410265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143732345	chr4:81410280-81410281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537433672	chr4:81410341-81410342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141090325	chr4:81410365-81410366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368007748	chr4:81410375-81410376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189829873	chr4:81410412-81410413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576080255	chr4:81410448-81410449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34269363	chr4:81410457-81410458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542975818	chr4:81410553-81410554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559865567	chr4:81410619-81410620	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs34554409	chr4:81410621-81410622	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs80301143	chr4:81410622-81410623	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs573357245	chr4:81410631-81410632	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs545240772	chr4:81410670-81410671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs564626926	chr4:81410682-81410683	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs530551998	chr4:81410756-81410757	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs550137645	chr4:81410757-81410758	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs77207121	chr4:81410799-81410800	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs143818736	chr4:81410802-81410803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148165323	chr4:81410887-81410888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546587582	chr4:81410929-81410930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566615662	chr4:81411007-81411008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs207464830	chr4:81411009-81411010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182152120	chr4:81411011-81411012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2172879	chr4:81411049-81411050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552904584	chr4:81411060-81411061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375625213	chr4:81411081-81411082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10716747	chr4:81411082-81411083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398083232	chr4:81411083-81411084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141064725	chr4:81411163-81411164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537572590	chr4:81411175-81411176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557298938	chr4:81411223-81411224	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs150240624	chr4:81411229-81411230	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536901170	chr4:81411258-81411259	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs574723274	chr4:81411260-81411261	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs138890352	chr4:81411266-81411267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs11933863	chr4:81411273-81411274	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560384060	chr4:81411361-81411362	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs74842499	chr4:81411367-81411368	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81406200-81412600	Weak transcription	Osteobl	bone
2	chr4:81407600-81421800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:81408000-81410800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:81408600-81412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:81410400-81411600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:81410600-81410800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:81410600-81411200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:81410600-81411400	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:81410600-81411600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr4:81410600-81411800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:81410600-81411800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:81410800-81411400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:81411000-81411400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:81411000-81411400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:81411000-81411400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:81411000-81411400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:81411000-81411600	Enhancers	Primary T cells from cord blood	blood
18	chr4:81411000-81411600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:81411000-81416600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:81411200-81411400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:81411200-81411400	Enhancers	GM12878-XiMat	blood
22	chr4:81411200-81412000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:81411400-81412400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:81411400-81412600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:81411400-81412600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:81411400-81412600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:81411400-81413200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:81411400-81413400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:81411600-81412600	Weak transcription	Primary T cells from cord blood	blood
30	chr4:81411600-81412600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:81411600-81412600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:81411600-81412600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:81411800-81412400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:81411800-81412600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:81412000-81412800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:81412000-81412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:81412400-81412600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:81412400-81412800	Active TSS	Liver	Liver
39	chr4:81412400-81413000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:81412400-81413000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:81412400-81416200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:81412400-81416800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:81412600-81412800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:81412600-81413000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:81412600-81413000	Active TSS	Osteobl	bone
46	chr4:81412600-81413800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr4:81412600-81413800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr4:81412600-81413800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr4:81412600-81414000	Enhancers	Primary T cells from cord blood	blood
50	chr4:81412600-81414000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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