Variant report

Variant	nsv830060
Chromosome Location	chr4:130315067-130471025
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:130310610..130312431-chr4:130323434..130326424,2	MCF-7	breast:
2	chr4:130464476..130465977-chr4:130466962..130469797,2	K562	blood:
3	chr4:130447569..130448465-chr4:130562081..130562729,3	MCF-7	breast:
4	chr4:130464038..130465977-chr4:130468297..130470324,2	K562	blood:
5	chr4:130330273..130332894-chr4:130334191..130336925,2	K562	blood:
6	chr4:130330273..130332894-chr4:130334191..130336925,2	K562	blood:
7	chr4:130406570..130408524-chr4:130411802..130413713,2	K562	blood:
8	chr4:130464476..130465977-chr4:130466962..130469797,2	K562	blood:
9	chr4:130324599..130326355-chr4:130330910..130332943,2	K562	blood:
10	chr4:130464038..130465977-chr4:130468297..130470324,2	K562	blood:
11	chr4:130447651..130448660-chr4:130562077..130562648,3	MCF-7	breast:
12	chr4:130324599..130326355-chr4:130330910..130332943,2	K562	blood:
13	chr4:130406570..130408524-chr4:130411802..130413713,2	K562	blood:

No data

Extended variants
information (count: 1990 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1990 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138749992	chr4:130315213-130315214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547645767	chr4:130315243-130315244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555522819	chr4:130315251-130315252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141813025	chr4:130315282-130315283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190603266	chr4:130315284-130315285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553402085	chr4:130315298-130315299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12508238	chr4:130315341-130315342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545095106	chr4:130315358-130315359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563739651	chr4:130315402-130315403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536226707	chr4:130315403-130315404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543171695	chr4:130315414-130315415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374805462	chr4:130315438-130315439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561059184	chr4:130315458-130315459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567267348	chr4:130315487-130315488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182563738	chr4:130315549-130315550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546832072	chr4:130315563-130315564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565035672	chr4:130315593-130315594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146279124	chr4:130315597-130315598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369212439	chr4:130315605-130315606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532102685	chr4:130315660-130315661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139998479	chr4:130315679-130315680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187166797	chr4:130315682-130315683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17014671	chr4:130315689-130315690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141418305	chr4:130315725-130315726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150847967	chr4:130315738-130315739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534912529	chr4:130315750-130315751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17014673	chr4:130315857-130315858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139332420	chr4:130315866-130315867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539353328	chr4:130315892-130315893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191668225	chr4:130315904-130315905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77204935	chr4:130315906-130315907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12331187	chr4:130315948-130315949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11942882	chr4:130315957-130315958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150030857	chr4:130315972-130315973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537973533	chr4:130316000-130316001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546883541	chr4:130316013-130316014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182980254	chr4:130316035-130316036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540075441	chr4:130316066-130316067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565150141	chr4:130316136-130316137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532286730	chr4:130316148-130316149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550487561	chr4:130316153-130316154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147728745	chr4:130316180-130316181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562139655	chr4:130316194-130316195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557836034	chr4:130316198-130316199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529652841	chr4:130316201-130316202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547838227	chr4:130316255-130316256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566468597	chr4:130316266-130316267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577954812	chr4:130316280-130316281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188311973	chr4:130316293-130316294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546863526	chr4:130316330-130316331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130315200-130315600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:130315600-130316600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:130315800-130316600	Enhancers	Brain Germinal Matrix	brain
4	chr4:130316600-130316800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:130316800-130318000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:130324200-130325000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:130324600-130325600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:130325000-130326800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:130325200-130325400	Enhancers	Brain Germinal Matrix	brain
10	chr4:130325400-130326000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:130325400-130326000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:130325600-130326200	Enhancers	Brain Angular Gyrus	brain
13	chr4:130325600-130326600	Enhancers	Brain Substantia Nigra	brain
14	chr4:130325800-130326200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:130326000-130327600	Enhancers	Brain Germinal Matrix	brain
16	chr4:130326200-130326600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:130326600-130327000	Enhancers	Brain Angular Gyrus	brain
18	chr4:130336200-130336800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:130348200-130351400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:130348800-130351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:130349800-130350000	Enhancers	Brain Germinal Matrix	brain
22	chr4:130350000-130351400	Weak transcription	Brain Germinal Matrix	brain
23	chr4:130350600-130351800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:130350600-130352000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:130350600-130352000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:130350800-130351200	Enhancers	HSMMtube	muscle
27	chr4:130350800-130352200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:130351000-130352200	Enhancers	NH-A	brain
29	chr4:130351200-130351600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:130351200-130351600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:130351200-130351800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:130351200-130351800	Flanking Active TSS	HSMMtube	muscle
33	chr4:130351200-130352200	Enhancers	Fetal Brain Male	brain
34	chr4:130351200-130352200	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:130351400-130351600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr4:130351400-130351800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:130351400-130352200	Enhancers	Colon Smooth Muscle	Colon
38	chr4:130351400-130352400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:130351400-130352400	Enhancers	Brain Germinal Matrix	brain
40	chr4:130351600-130351800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr4:130351600-130352200	Enhancers	HSMM	muscle
42	chr4:130351800-130352000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr4:130351800-130352000	Enhancers	HSMMtube	muscle
44	chr4:130352000-130352200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:130352000-130352200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:130352400-130352600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:130354000-130354200	Enhancers	NH-A	brain
48	chr4:130366600-130367200	Enhancers	HSMM	muscle
49	chr4:130367000-130367200	Flanking Active TSS	HSMMtube	muscle
50	chr4:130367000-130367400	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links