Variant report

Variant	nsv1013439
Chromosome Location	chr4:103178743-103191787
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:3858607..3859255-chr4:103183150..103184141,2	MCF-7	breast:
2	chr4:103178615..103179571-chr4:103266208..103266809,2	K562	blood:
3	chr4:102265718..102267485-chr4:103187307..103189886,2	MCF-7	breast:
4	chr4:102266747..102268895-chr4:103177571..103180398,2	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: 439 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539664022	chr4:103178814-103178815	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551566804	chr4:103178858-103178859	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145488467	chr4:103178889-103178890	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs72924814	chr4:103178948-103178949	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73836551	chr4:103178952-103178953	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189615709	chr4:103179016-103179017	Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534562877	chr4:103179063-103179064	Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs137984076	chr4:103179156-103179157	Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115980427	chr4:103179168-103179169	Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547661049	chr4:103179171-103179172	Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs4476601	chr4:103179173-103179174	Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564370120	chr4:103179187-103179188	Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181457501	chr4:103179252-103179253	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191970949	chr4:103179261-103179262	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs6813511	chr4:103179268-103179269	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377619221	chr4:103179270-103179271	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7681171	chr4:103179275-103179276	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144632106	chr4:103179286-103179287	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529272587	chr4:103179325-103179326	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569686230	chr4:103179341-103179342	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549452364	chr4:103179375-103179376	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559899699	chr4:103179389-103179390	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533499585	chr4:103179393-103179394	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138386169	chr4:103179403-103179404	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537258804	chr4:103179408-103179409	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs78966950	chr4:103179429-103179430	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75109624	chr4:103179444-103179445	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549010765	chr4:103179534-103179535	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188558028	chr4:103179547-103179548	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181324629	chr4:103179571-103179572	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186702714	chr4:103179618-103179619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371845001	chr4:103179631-103179632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538396199	chr4:103179713-103179714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556631376	chr4:103179751-103179752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116625317	chr4:103179757-103179758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570639718	chr4:103179786-103179787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7662378	chr4:103179788-103179789	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs76296398	chr4:103179816-103179817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574239185	chr4:103179883-103179884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541729311	chr4:103179946-103179947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190694202	chr4:103179977-103179978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533360950	chr4:103179989-103179990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545558592	chr4:103180010-103180011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34914460	chr4:103180019-103180020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368028179	chr4:103180024-103180025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181071613	chr4:103180047-103180048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530641521	chr4:103180074-103180075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549127454	chr4:103180122-103180123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs170871	chr4:103180149-103180150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs187016844	chr4:103180244-103180245	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103172000-103179000	Weak transcription	Lung	lung
2	chr4:103175600-103180800	Weak transcription	Liver	Liver
3	chr4:103178800-103179000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:103178800-103179000	Enhancers	K562	blood
5	chr4:103179000-103179200	Bivalent Enhancer	Aorta	Aorta
6	chr4:103179000-103179200	Enhancers	Lung	lung
7	chr4:103179000-103179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:103179000-103179400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:103179000-103179400	Active TSS	K562	blood
10	chr4:103179000-103184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:103179200-103179600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:103179200-103202200	Weak transcription	Lung	lung
13	chr4:103179400-103188800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:103179400-103221000	Weak transcription	K562	blood
15	chr4:103180000-103180600	Enhancers	HUVEC	blood vessel
16	chr4:103180200-103180400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:103180200-103180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:103180400-103180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:103180400-103181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:103180400-103200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:103180600-103184400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:103180800-103181000	Enhancers	Liver	Liver
23	chr4:103180800-103181000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr4:103180800-103181600	Enhancers	Fetal Intestine Large	intestine
25	chr4:103180800-103181600	Enhancers	Fetal Intestine Small	intestine
26	chr4:103181000-103181400	Weak transcription	Liver	Liver
27	chr4:103181000-103183400	Weak transcription	Hela-S3	cervix
28	chr4:103181000-103185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:103181000-103188200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:103181400-103181600	Enhancers	Liver	Liver
31	chr4:103181400-103197600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:103181600-103181800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr4:103181600-103183200	Weak transcription	Dnd41	blood
34	chr4:103181600-103210800	Weak transcription	Liver	Liver
35	chr4:103181800-103230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:103182000-103185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:103182800-103185400	Weak transcription	Left Ventricle	heart
39	chr4:103182800-103188200	Weak transcription	Placenta	Placenta
40	chr4:103183200-103184400	Strong transcription	Dnd41	blood
41	chr4:103183400-103186200	Strong transcription	Hela-S3	cervix
42	chr4:103183400-103210600	Weak transcription	Primary B cells from cord blood	blood
43	chr4:103183800-103184200	Enhancers	A549	lung
44	chr4:103184000-103184400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:103184000-103184400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:103184000-103196600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:103184200-103184400	Enhancers	Primary T cells from cord blood	blood
48	chr4:103184200-103189200	Weak transcription	A549	lung
49	chr4:103184200-103220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:103184400-103184600	Enhancers	Primary T helper cells PMA-I stimulated	--

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