Variant report

Variant	nsv1013313
Chromosome Location	chr4:103175700-103206555
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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

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

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

No data

Variant related genes	Relation type
ENSG00000138821	chromatin interactions
ENSG00000138814	chromatin interactions

Extended variants
information (count: 1119 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190525067	chr4:103175709-103175710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557693539	chr4:103175719-103175720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182865	chr4:103175743-103175744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs542673375	chr4:103175755-103175756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145943967	chr4:103175874-103175875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182191971	chr4:103175944-103175945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540765543	chr4:103175963-103175964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62327912	chr4:103176039-103176040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532184761	chr4:103176061-103176062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543956253	chr4:103176078-103176079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565652462	chr4:103176097-103176098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562462474	chr4:103176162-103176163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529965583	chr4:103176164-103176165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548166740	chr4:103176175-103176176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560142261	chr4:103176238-103176239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17032317	chr4:103176246-103176247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142976088	chr4:103176305-103176306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17823175	chr4:103176308-103176309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs16996761	chr4:103176328-103176329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542104141	chr4:103176441-103176442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189911457	chr4:103176477-103176478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536978696	chr4:103176493-103176494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181743411	chr4:103176502-103176503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554959679	chr4:103176523-103176524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573227816	chr4:103176531-103176532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533898374	chr4:103176549-103176550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16996763	chr4:103176582-103176583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576898970	chr4:103176601-103176602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185656330	chr4:103176649-103176650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116739481	chr4:103176673-103176674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190275912	chr4:103176693-103176694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529366413	chr4:103176700-103176701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560147165	chr4:103176716-103176717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139977442	chr4:103176735-103176736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58379650	chr4:103176740-103176741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs151369	chr4:103176770-103176771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs369579011	chr4:103176783-103176784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371882257	chr4:103176788-103176789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564188402	chr4:103176794-103176795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531471922	chr4:103176795-103176796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76772512	chr4:103176805-103176806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376322675	chr4:103176894-103176895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369891433	chr4:103176902-103176903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569479105	chr4:103176915-103176916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114597693	chr4:103176922-103176923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560624921	chr4:103176989-103176990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548871080	chr4:103177002-103177003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76508590	chr4:103177023-103177024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2298752	chr4:103177071-103177072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs558489107	chr4:103177088-103177089	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:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103172000-103179000	Weak transcription	Lung	lung
2	chr4:103175200-103175800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:103175600-103180800	Weak transcription	Liver	Liver
4	chr4:103176800-103178200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:103178800-103179000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:103178800-103179000	Enhancers	K562	blood
7	chr4:103179000-103179200	Bivalent Enhancer	Aorta	Aorta
8	chr4:103179000-103179200	Enhancers	Lung	lung
9	chr4:103179000-103179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:103179000-103179400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:103179000-103179400	Active TSS	K562	blood
12	chr4:103179000-103184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:103179200-103179600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr4:103179200-103202200	Weak transcription	Lung	lung
15	chr4:103179400-103188800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:103179400-103221000	Weak transcription	K562	blood
17	chr4:103180000-103180600	Enhancers	HUVEC	blood vessel
18	chr4:103180200-103180400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:103180200-103180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:103180400-103180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:103180400-103181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:103180400-103200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:103180600-103184400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:103180800-103181000	Enhancers	Liver	Liver
25	chr4:103180800-103181000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:103180800-103181600	Enhancers	Fetal Intestine Large	intestine
27	chr4:103180800-103181600	Enhancers	Fetal Intestine Small	intestine
28	chr4:103181000-103181400	Weak transcription	Liver	Liver
29	chr4:103181000-103183400	Weak transcription	Hela-S3	cervix
30	chr4:103181000-103185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:103181000-103188200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:103181400-103181600	Enhancers	Liver	Liver
33	chr4:103181400-103197600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:103181600-103181800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:103181600-103183200	Weak transcription	Dnd41	blood
36	chr4:103181600-103210800	Weak transcription	Liver	Liver
37	chr4:103181800-103230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:103182000-103185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:103182800-103185400	Weak transcription	Left Ventricle	heart
41	chr4:103182800-103188200	Weak transcription	Placenta	Placenta
42	chr4:103183200-103184400	Strong transcription	Dnd41	blood
43	chr4:103183400-103186200	Strong transcription	Hela-S3	cervix
44	chr4:103183400-103210600	Weak transcription	Primary B cells from cord blood	blood
45	chr4:103183800-103184200	Enhancers	A549	lung
46	chr4:103184000-103184400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:103184000-103184400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:103184000-103196600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:103184200-103184400	Enhancers	Primary T cells from cord blood	blood
50	chr4:103184200-103189200	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links