Variant report

Variant	nsv594698
Chromosome Location	chr4:78291876-78334483
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:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78296565..78297450-chr4:78353933..78354751,2	MCF-7	breast:
2	chr4:78307688..78309988-chr4:78313564..78315382,2	K562	blood:
3	chr4:78306262..78307241-chr4:78353866..78354908,3	MCF-7	breast:
4	chr4:78306138..78307360-chr4:78339239..78340037,9	MCF-7	breast:
5	chr4:78306302..78306941-chr4:78521930..78522730,3	MCF-7	breast:
6	chr4:78306597..78307214-chr4:78394387..78394937,2	K562	blood:
7	chr4:78298658..78300930-chr4:78308885..78310955,2	MCF-7	breast:
8	chr4:78306158..78306757-chr4:78339536..78340194,2	MCF-7	breast:
9	chr4:78306456..78307324-chr4:78354247..78354761,2	K562	blood:
10	chr4:78306279..78307489-chr4:78353325..78355121,9	MCF-7	breast:
11	chr4:78298658..78300930-chr4:78308885..78310955,2	MCF-7	breast:
12	chr4:78306259..78307081-chr4:78539517..78540020,2	K562	blood:
13	chr4:78306282..78306818-chr4:78539506..78540132,2	MCF-7	breast:
14	chr4:78289830..78292754-chr4:78299148..78300754,2	K562	blood:
15	chr4:78289830..78292754-chr4:78299148..78300754,2	K562	blood:
16	chr4:78307688..78309988-chr4:78313564..78315382,2	K562	blood:
17	chr4:78292160..78295150-chr4:78297091..78299092,2	MCF-7	breast:
18	chr4:78306285..78307276-chr4:78351745..78352760,5	MCF-7	breast:
19	chr4:78292160..78295150-chr4:78297091..78299092,2	MCF-7	breast:
20	chr4:78306484..78307565-chr4:78351707..78352604,5	MCF-7	breast:
21	chr4:78307066..78309627-chr4:78338398..78341247,3	MCF-7	breast:
22	chr4:78306562..78308497-chr4:78334856..78338257,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNG2-1	chr4:78305791-78305921	NONHSAT097050
2	lnc-CNOT6L-1	chr4:78320747-78320948	XLOC_003994
3	lnc-CNOT6L-1	chr4:78315645-78315891	XLOC_003994

No data

Extended variants
information (count: 1168 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1168 , 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	rs17002600	chr4:78291876-78291877	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17002601	chr4:78291904-78291905	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17002603	chr4:78291907-78291908	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs17002604	chr4:78291955-78291956	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572255734	chr4:78291997-78291998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2866281	chr4:78292049-78292050	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559780401	chr4:78292062-78292063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs34701312	chr4:78292134-78292135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532098540	chr4:78292143-78292144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs551864579	chr4:78292184-78292185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374714185	chr4:78292185-78292186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186612538	chr4:78292200-78292201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12500776	chr4:78292203-78292204	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568367228	chr4:78292265-78292266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533936456	chr4:78292275-78292276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547630293	chr4:78292277-78292278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191503944	chr4:78292333-78292334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539969754	chr4:78292354-78292355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556270507	chr4:78292416-78292417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148087317	chr4:78292450-78292451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79130254	chr4:78292480-78292481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555984595	chr4:78292532-78292533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184014429	chr4:78292552-78292553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs372128039	chr4:78292561-78292562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112057805	chr4:78292578-78292579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187911061	chr4:78292605-78292606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112505858	chr4:78292606-78292607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545922965	chr4:78292624-78292625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562342531	chr4:78292704-78292705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs72864735	chr4:78292763-78292764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs72864736	chr4:78292781-78292782	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs207464822	chr4:78293421-78293422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549723006	chr4:78293434-78293435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181738504	chr4:78293474-78293475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529395837	chr4:78293486-78293487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139494521	chr4:78293487-78293488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565776619	chr4:78293501-78293502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111278499	chr4:78293502-78293503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs118118325	chr4:78293537-78293538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566750422	chr4:78293540-78293541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557982920	chr4:78293559-78293560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571856665	chr4:78293574-78293575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79009567	chr4:78293588-78293589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373855342	chr4:78293589-78293590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563494478	chr4:78294203-78294204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573707750	chr4:78294204-78294205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs74520643	chr4:78294208-78294209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559388338	chr4:78294219-78294220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs75799318	chr4:78294230-78294231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373253145	chr4:78294238-78294239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78291800-78292800	ZNF genes & repeats	Aorta	Aorta
2	chr4:78293400-78293600	Enhancers	Fetal Intestine Small	intestine
3	chr4:78294200-78294800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:78294800-78295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:78297000-78297400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:78297000-78297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:78297000-78297400	Enhancers	Primary T cells from cord blood	blood
8	chr4:78297000-78297800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:78297000-78297800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:78297000-78298000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:78297000-78298400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:78297200-78297600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:78297200-78297800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:78298000-78299400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:78298200-78298400	Enhancers	Fetal Intestine Small	intestine
16	chr4:78298400-78298600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:78298400-78299600	Weak transcription	Fetal Intestine Small	intestine
18	chr4:78298400-78306800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:78299400-78300600	Enhancers	Fetal Intestine Large	intestine
20	chr4:78299600-78300600	Enhancers	Fetal Intestine Small	intestine
21	chr4:78299800-78300000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:78300600-78306200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:78306200-78308200	Enhancers	Fetal Intestine Small	intestine
24	chr4:78306400-78307000	Enhancers	Fetal Muscle Leg	muscle
25	chr4:78306400-78307000	Enhancers	Fetal Thymus	thymus
26	chr4:78306800-78307000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:78306800-78308200	Enhancers	Fetal Intestine Large	intestine
28	chr4:78307000-78307200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:78307000-78308800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:78307000-78308800	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:78307200-78308800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:78308200-78311200	Weak transcription	Fetal Intestine Large	intestine
33	chr4:78308800-78309400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr4:78308800-78309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:78308800-78309400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:78308800-78309800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:78308800-78310200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:78308800-78310400	Enhancers	Fetal Muscle Leg	muscle
39	chr4:78309000-78309600	Enhancers	Psoas Muscle	Psoas
40	chr4:78309200-78309400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:78309200-78311800	Weak transcription	Aorta	Aorta
42	chr4:78309600-78310000	Weak transcription	Psoas Muscle	Psoas
43	chr4:78310000-78310400	Enhancers	Psoas Muscle	Psoas
44	chr4:78311200-78312200	Enhancers	Fetal Intestine Large	intestine
45	chr4:78312200-78316600	Weak transcription	Fetal Intestine Large	intestine
46	chr4:78316200-78316600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr4:78316400-78317000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:78316600-78316800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:78316600-78317000	Enhancers	Fetal Kidney	kidney
50	chr4:78316600-78317200	Enhancers	Colon Smooth Muscle	Colon

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