Variant report

Variant	nsv1002129
Chromosome Location	chr4:103174196-103206555
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	chr4:102265718..102267485-chr4:103187307..103189886,2	MCF-7	breast:
2	chr3:3858607..3859255-chr4:103183150..103184141,2	MCF-7	breast:
3	chr4:103173195..103175127-chr4:103176790..103178725,2	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	chr4:103173195..103175127-chr4:103176790..103178725,2	MCF-7	breast:
7	chr4:103178615..103179571-chr4:103266208..103266809,2	K562	blood:

(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
ENSG00000138814	chromatin interactions
ENSG00000138821	chromatin interactions

Extended variants
information (count: 1177 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151372	chr4:103174196-103174197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183898347	chr4:103174216-103174217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371827144	chr4:103174220-103174221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571474206	chr4:103174249-103174250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538271382	chr4:103174289-103174290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151371	chr4:103174309-103174310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs11382393	chr4:103174316-103174317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397697625	chr4:103174320-103174321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374483815	chr4:103174321-103174322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535966969	chr4:103174326-103174327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554644233	chr4:103174334-103174335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574191900	chr4:103174337-103174338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373502845	chr4:103174355-103174356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73836548	chr4:103174425-103174426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559797877	chr4:103174429-103174430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578241619	chr4:103174441-103174442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545701583	chr4:103174476-103174477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116469245	chr4:103174485-103174486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151370	chr4:103174491-103174492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs138590198	chr4:103174503-103174504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561395873	chr4:103174508-103174509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114824667	chr4:103174536-103174537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375553435	chr4:103174542-103174543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373054136	chr4:103174555-103174556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546748336	chr4:103174571-103174572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571222157	chr4:103174578-103174579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149287806	chr4:103174640-103174641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17032286	chr4:103174653-103174654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373816413	chr4:103174659-103174660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577108018	chr4:103174661-103174662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568557395	chr4:103174667-103174668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17032290	chr4:103174728-103174729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556403814	chr4:103174770-103174771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543087565	chr4:103174796-103174797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192068	chr4:103174819-103174820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs566513193	chr4:103174857-103174858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534927062	chr4:103174943-103174944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188711368	chr4:103174948-103174949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578202365	chr4:103174997-103174998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545762805	chr4:103175000-103175001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75886786	chr4:103175005-103175006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191128705	chr4:103175020-103175021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78365219	chr4:103175148-103175149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184368337	chr4:103175166-103175167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528553373	chr4:103175242-103175243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72924809	chr4:103175250-103175251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531926713	chr4:103175274-103175275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149268	chr4:103175292-103175293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs532168871	chr4:103175309-103175310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550499728	chr4:103175349-103175350	Enhancers Weak transcription	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:169 , 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	chr4:103175000-103175600	Enhancers	Liver	Liver
3	chr4:103175200-103175800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:103175600-103180800	Weak transcription	Liver	Liver
5	chr4:103176800-103178200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:103178800-103179000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:103178800-103179000	Enhancers	K562	blood
8	chr4:103179000-103179200	Bivalent Enhancer	Aorta	Aorta
9	chr4:103179000-103179200	Enhancers	Lung	lung
10	chr4:103179000-103179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:103179000-103179400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:103179000-103179400	Active TSS	K562	blood
13	chr4:103179000-103184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:103179200-103179600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr4:103179200-103202200	Weak transcription	Lung	lung
16	chr4:103179400-103188800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:103179400-103221000	Weak transcription	K562	blood
18	chr4:103180000-103180600	Enhancers	HUVEC	blood vessel
19	chr4:103180200-103180400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:103180200-103180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:103180400-103180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:103180400-103181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:103180400-103200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:103180600-103184400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:103180800-103181000	Enhancers	Liver	Liver
26	chr4:103180800-103181000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:103180800-103181600	Enhancers	Fetal Intestine Large	intestine
28	chr4:103180800-103181600	Enhancers	Fetal Intestine Small	intestine
29	chr4:103181000-103181400	Weak transcription	Liver	Liver
30	chr4:103181000-103183400	Weak transcription	Hela-S3	cervix
31	chr4:103181000-103185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:103181000-103188200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:103181400-103181600	Enhancers	Liver	Liver
34	chr4:103181400-103197600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:103181600-103181800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:103181600-103183200	Weak transcription	Dnd41	blood
37	chr4:103181600-103210800	Weak transcription	Liver	Liver
38	chr4:103181800-103230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:103182000-103185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:103182800-103185400	Weak transcription	Left Ventricle	heart
42	chr4:103182800-103188200	Weak transcription	Placenta	Placenta
43	chr4:103183200-103184400	Strong transcription	Dnd41	blood
44	chr4:103183400-103186200	Strong transcription	Hela-S3	cervix
45	chr4:103183400-103210600	Weak transcription	Primary B cells from cord blood	blood
46	chr4:103183800-103184200	Enhancers	A549	lung
47	chr4:103184000-103184400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:103184000-103184400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr4:103184000-103196600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:103184200-103184400	Enhancers	Primary T cells from cord blood	blood

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