Variant report

Variant	nsv1008680
Chromosome Location	chr4:103153709-103206555
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103173195..103175127-chr4:103176790..103178725,2	MCF-7	breast:
2	chr4:102265718..102267485-chr4:103187307..103189886,2	MCF-7	breast:
3	chr4:102266747..102268895-chr4:103177571..103180398,2	MCF-7	breast:
4	chr4:103178615..103179571-chr4:103266208..103266809,2	K562	blood:
5	chr4:103203177..103206045-chr4:103206717..103208607,2	K562	blood:
6	chr3:3858607..3859255-chr4:103183150..103184141,2	MCF-7	breast:
7	chr4:103173195..103175127-chr4:103176790..103178725,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MANBA-1	chr4:103190873-103190951	NONHSAT097578
2	lnc-MANBA-4	chr4:103183267-103183758	NONHSAT097577

No data

Variant related genes	Relation type
ENSG00000138821	chromatin interactions
ENSG00000138814	chromatin interactions

Extended variants
information (count: 2303 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2303 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs452385	chr4:103153709-103153710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575074632	chr4:103153725-103153726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575399438	chr4:103153736-103153737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368845	chr4:103153755-103153756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs543880582	chr4:103153758-103153759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs394649	chr4:103153854-103153855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs182641038	chr4:103153893-103153894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115799759	chr4:103153915-103153916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79623793	chr4:103153951-103153952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs460670	chr4:103154004-103154005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs531625393	chr4:103154034-103154035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547152092	chr4:103154064-103154065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544086206	chr4:103154068-103154069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560890246	chr4:103154069-103154070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539287903	chr4:103154124-103154125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186045555	chr4:103154125-103154126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs460610	chr4:103154130-103154131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs536754665	chr4:103154154-103154155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555142696	chr4:103154161-103154162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573351676	chr4:103154180-103154181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540087606	chr4:103154187-103154188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192152294	chr4:103154218-103154219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577082438	chr4:103154241-103154242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544445863	chr4:103154248-103154249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562152012	chr4:103154254-103154255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs406749	chr4:103154313-103154314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs541422983	chr4:103154344-103154345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183807107	chr4:103154345-103154346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367659	chr4:103154391-103154392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs532079884	chr4:103154414-103154415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546896334	chr4:103154450-103154451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187878241	chr4:103154497-103154498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192091589	chr4:103154508-103154509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145601805	chr4:103154541-103154542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569563098	chr4:103154544-103154545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116028500	chr4:103154580-103154581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371259651	chr4:103154581-103154582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554985488	chr4:103154598-103154599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559687176	chr4:103155037-103155038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114833788	chr4:103155064-103155065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184330124	chr4:103155068-103155069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560409567	chr4:103155074-103155075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs527681998	chr4:103155109-103155110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs375982215	chr4:103155162-103155163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147719325	chr4:103155164-103155165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551193900	chr4:103155179-103155180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189225298	chr4:103155195-103155196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs530382511	chr4:103155226-103155227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs366374	chr4:103155227-103155228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554041868	chr4:103155258-103155259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103152600-103153800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:103152600-103154200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:103153800-103154600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:103154200-103154600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:103155000-103155800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr4:103155000-103156000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:103155400-103156000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:103156000-103170200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:103161600-103166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:103166000-103166600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:103166000-103166800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:103166600-103171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:103166800-103171600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:103167400-103168600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:103167600-103168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:103167600-103169000	Enhancers	NH-A	brain
17	chr4:103168400-103168800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:103168400-103168800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:103168600-103168800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:103169000-103172400	Weak transcription	NH-A	brain
21	chr4:103170800-103173000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:103171000-103171800	Weak transcription	Lung	lung
23	chr4:103171400-103171800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:103171600-103172000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:103171800-103172000	ZNF genes & repeats	Lung	lung
26	chr4:103172000-103179000	Weak transcription	Lung	lung
27	chr4:103172400-103172800	Enhancers	NH-A	brain
28	chr4:103175000-103175600	Enhancers	Liver	Liver
29	chr4:103175200-103175800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:103175600-103180800	Weak transcription	Liver	Liver
31	chr4:103176800-103178200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr4:103178800-103179000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:103178800-103179000	Enhancers	K562	blood
34	chr4:103179000-103179200	Bivalent Enhancer	Aorta	Aorta
35	chr4:103179000-103179200	Enhancers	Lung	lung
36	chr4:103179000-103179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr4:103179000-103179400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr4:103179000-103179400	Active TSS	K562	blood
39	chr4:103179000-103184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:103179200-103179600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr4:103179200-103202200	Weak transcription	Lung	lung
42	chr4:103179400-103188800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:103179400-103221000	Weak transcription	K562	blood
44	chr4:103180000-103180600	Enhancers	HUVEC	blood vessel
45	chr4:103180200-103180400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:103180200-103180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:103180400-103180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:103180400-103181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:103180400-103200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:103180600-103184400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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