Variant report

Variant	nsv830018
Chromosome Location	chr4:100977238-101027920
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
2	chr4:100869287..100871167-chr4:101016882..101019433,2	K562	blood:
3	chr4:100869969..100871926-chr4:100976721..100978260,2	MCF-7	breast:
4	chr4:100918838..100919810-chr4:101016858..101017790,8	MCF-7	breast:
5	chr4:100869528..100872749-chr4:101000767..101003889,3	K562	blood:
6	chr4:100920168..100921025-chr4:101017073..101017833,2	MCF-7	breast:
7	chr2:88314513..88317034-chr4:100999296..101000816,2	K562	blood:
8	chr4:100871002..100872693-chr4:100984695..100986300,2	K562	blood:
9	chr4:100868231..100870491-chr4:101024426..101027309,2	K562	blood:
10	chr4:100993641..100994147-chr7:69228084..69228959,2	MCF-7	breast:
11	chr4:101013911..101015173-chr4:101231169..101232872,9	MCF-7	breast:
12	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
13	chr4:100870881..100872772-chr4:100980721..100983825,3	K562	blood:
14	chr4:100919219..100919767-chr4:101016846..101017839,4	MCF-7	breast:
15	chr2:88314704..88316254-chr4:101000816..101002316,2	MCF-7	breast:
16	chr4:100919042..100919985-chr4:100984315..100985120,2	MCF-7	breast:
17	chr4:100977704..100980189-chr4:100983347..100984951,2	K562	blood:
18	chr4:100985133..100987017-chr4:100990032..100992836,2	K562	blood:
19	chr4:100970987..100972778-chr4:100975629..100977996,2	MCF-7	breast:
20	chr4:100992112..100993959-chr4:103361272..103364197,2	K562	blood:
21	chr2:88315639..88316258-chr4:101000796..101001316,2	MCF-7	breast:
22	chr4:100985133..100987017-chr4:100990032..100992836,2	K562	blood:
23	chr4:100977704..100980189-chr4:100983347..100984951,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000164032	chromatin interactions

Extended variants
information (count: 1516 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1516 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554498315	chr4:100977296-100977297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572789334	chr4:100977328-100977329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs55970627	chr4:100977369-100977370	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572157852	chr4:100977383-100977384	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7697917	chr4:100977398-100977399	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185007726	chr4:100977417-100977418	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7675901	chr4:100977431-100977432	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs7675947	chr4:100977491-100977492	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545129055	chr4:100977558-100977559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7698135	chr4:100977572-100977573	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs72918771	chr4:100977584-100977585	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575694455	chr4:100977597-100977598	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs62306113	chr4:100977607-100977608	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561355977	chr4:100977622-100977623	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189520693	chr4:100977659-100977660	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181734744	chr4:100977661-100977662	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564829139	chr4:100977669-100977670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532135161	chr4:100977705-100977706	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184532265	chr4:100977712-100977713	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550353103	chr4:100977738-100977739	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568913573	chr4:100977840-100977841	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34969981	chr4:100977855-100977856	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139758329	chr4:100977873-100977874	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548333040	chr4:100977913-100977914	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs7698890	chr4:100977926-100977927	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142741402	chr4:100977965-100977966	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs566353693	chr4:100977988-100977989	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531837472	chr4:100977994-100977995	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533793401	chr4:100978004-100978005	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150971936	chr4:100978100-100978101	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376040257	chr4:100978159-100978160	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs72918775	chr4:100978163-100978164	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189482754	chr4:100978180-100978181	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111958087	chr4:100978190-100978191	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs62306114	chr4:100978210-100978211	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181803203	chr4:100978229-100978230	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185375134	chr4:100978230-100978231	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs577457130	chr4:100978236-100978237	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536045931	chr4:100978291-100978292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62306115	chr4:100978301-100978302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190924871	chr4:100978304-100978305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540869545	chr4:100978339-100978340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139577072	chr4:100978435-100978436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532723915	chr4:100978520-100978521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550537918	chr4:100978528-100978529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559696304	chr4:100978551-100978552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180784852	chr4:100978571-100978572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529771811	chr4:100978575-100978576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370836022	chr4:100978627-100978628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112484641	chr4:100978672-100978673	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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100977200-100977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:100978000-100979000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:100978800-100979000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:100981600-100982400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:100981600-100982400	Enhancers	GM12878-XiMat	blood
6	chr4:100981800-100982200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:100981800-100982200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:100981800-100982400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:100981800-100982400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:100981800-100982400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:100981800-100982400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:100981800-100982400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:100981800-100983200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:100982000-100982400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:100982000-100983600	Enhancers	Placenta	Placenta
16	chr4:100982600-100983800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:100982800-100984400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:100983200-100983800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:100983200-100985200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:100983200-100985400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:100983600-100984400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:100983600-100984800	Enhancers	NH-A	brain
23	chr4:100984000-100984400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:100984000-100984400	Enhancers	NHDF-Ad	bronchial
25	chr4:100989600-100990000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:100990000-100990200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:100990200-100992000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:100992000-100993800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:100992600-100993400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:100992800-100993200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:100993200-100996400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:100993400-100996600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:100995800-100997000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:100996200-100997000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:100996200-100997000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:100996200-100997200	Enhancers	NHEK	skin
37	chr4:100996400-100996600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:100996400-100996800	Enhancers	HSMMtube	muscle
39	chr4:100996400-100996800	Enhancers	NH-A	brain
40	chr4:100996400-100997000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:100996400-100997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:100996400-100997000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:100996600-100998200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:100996600-100998200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:100996600-101002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:100997000-101000400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:100997000-101009000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:100997200-100998200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:100997200-101002400	Weak transcription	NHEK	skin
50	chr4:100997600-100998000	Enhancers	Placenta	Placenta

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