Variant report

Variant	nsv998689
Chromosome Location	chr4:103179788-103206555
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: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	chr4:102265718..102267485-chr4:103187307..103189886,2	MCF-7	breast:
2	chr4:103203177..103206045-chr4:103206717..103208607,2	K562	blood:
3	chr3:3858607..3859255-chr4:103183150..103184141,2	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
ENSG00000138814	chromatin interactions

Extended variants
information (count: 960 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7662378	chr4:103179788-103179789	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76296398	chr4:103179816-103179817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574239185	chr4:103179883-103179884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541729311	chr4:103179946-103179947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190694202	chr4:103179977-103179978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533360950	chr4:103179989-103179990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545558592	chr4:103180010-103180011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34914460	chr4:103180019-103180020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368028179	chr4:103180024-103180025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181071613	chr4:103180047-103180048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530641521	chr4:103180074-103180075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549127454	chr4:103180122-103180123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs170871	chr4:103180149-103180150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs187016844	chr4:103180244-103180245	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149255616	chr4:103180272-103180273	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372131917	chr4:103180286-103180287	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570953484	chr4:103180305-103180306	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144440048	chr4:103180410-103180411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550136464	chr4:103180434-103180435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554790182	chr4:103180441-103180442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546151182	chr4:103180456-103180457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375494900	chr4:103180502-103180503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537260458	chr4:103180503-103180504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148804940	chr4:103180514-103180515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372990265	chr4:103180526-103180527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377384689	chr4:103180552-103180553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565552411	chr4:103180595-103180596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143300464	chr4:103180653-103180654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190904608	chr4:103180675-103180676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182788021	chr4:103180686-103180687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578077100	chr4:103180715-103180716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545392435	chr4:103180756-103180757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373721282	chr4:103180758-103180759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34384466	chr4:103180792-103180793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187435219	chr4:103180811-103180812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191684282	chr4:103180845-103180846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531068701	chr4:103180873-103180874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189215	chr4:103180875-103180876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561186550	chr4:103180915-103180916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528263206	chr4:103180926-103180927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190086616	chr4:103180938-103180939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546502552	chr4:103180949-103180950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116559892	chr4:103181009-103181010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534734843	chr4:103181050-103181051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151368	chr4:103181113-103181114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs550513654	chr4:103181124-103181125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147514725	chr4:103181137-103181138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140055369	chr4:103181164-103181165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370158357	chr4:103181190-103181191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554363582	chr4:103181229-103181230	Weak transcription Enhancers	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:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103175600-103180800	Weak transcription	Liver	Liver
2	chr4:103179000-103184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:103179200-103202200	Weak transcription	Lung	lung
4	chr4:103179400-103188800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:103179400-103221000	Weak transcription	K562	blood
6	chr4:103180000-103180600	Enhancers	HUVEC	blood vessel
7	chr4:103180200-103180400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:103180200-103180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:103180400-103180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:103180400-103181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:103180400-103200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:103180600-103184400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:103180800-103181000	Enhancers	Liver	Liver
14	chr4:103180800-103181000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:103180800-103181600	Enhancers	Fetal Intestine Large	intestine
16	chr4:103180800-103181600	Enhancers	Fetal Intestine Small	intestine
17	chr4:103181000-103181400	Weak transcription	Liver	Liver
18	chr4:103181000-103183400	Weak transcription	Hela-S3	cervix
19	chr4:103181000-103185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:103181000-103188200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:103181400-103181600	Enhancers	Liver	Liver
22	chr4:103181400-103197600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:103181600-103181800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:103181600-103183200	Weak transcription	Dnd41	blood
25	chr4:103181600-103210800	Weak transcription	Liver	Liver
26	chr4:103181800-103230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:103182000-103185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:103182800-103185400	Weak transcription	Left Ventricle	heart
30	chr4:103182800-103188200	Weak transcription	Placenta	Placenta
31	chr4:103183200-103184400	Strong transcription	Dnd41	blood
32	chr4:103183400-103186200	Strong transcription	Hela-S3	cervix
33	chr4:103183400-103210600	Weak transcription	Primary B cells from cord blood	blood
34	chr4:103183800-103184200	Enhancers	A549	lung
35	chr4:103184000-103184400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:103184000-103184400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:103184000-103196600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:103184200-103184400	Enhancers	Primary T cells from cord blood	blood
39	chr4:103184200-103189200	Weak transcription	A549	lung
40	chr4:103184200-103220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:103184400-103184600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:103184400-103184600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:103184400-103184600	Enhancers	GM12878-XiMat	blood
44	chr4:103184400-103185000	Weak transcription	Primary T cells from cord blood	blood
45	chr4:103184400-103185600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:103184400-103185600	Weak transcription	Dnd41	blood
47	chr4:103184400-103189200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:103184400-103190200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:103184600-103186200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:103184600-103188200	Weak transcription	Primary T cells fromperipheralblood	blood

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