Variant report

Variant	nsv879937
Chromosome Location	chr4:131065136-131174088
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
2	chr13:97378483..97379144-chr4:131166728..131167230,2	MCF-7	breast:
3	chr4:131149586..131151666-chr4:131154297..131156397,2	K562	blood:
4	chr4:131149586..131151666-chr4:131154297..131156397,2	K562	blood:
5	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
6	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:
7	chr4:131153992..131157908-chr4:131192612..131195351,3	K562	blood:
8	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-6	chr4:131094983-131095181	ucscGeneNc_uc003igw_1
2	lnc-C4orf33-6	chr4:131093879-131093944	ucscGeneNc_uc003igw_1
3	lnc-C4orf33-6	chr4:131095857-131095973	ucscGeneNc_uc003igw_1
4	lnc-C4orf33-6	chr4:131089682-131089742	ucscGeneNc_uc003igw_1

No data

Extended variants
information (count: 2630 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2630 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2893314	chr4:131065136-131065137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560517140	chr4:131065182-131065183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28592799	chr4:131065258-131065259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541281945	chr4:131065315-131065316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2391602	chr4:131065323-131065324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370743113	chr4:131065324-131065325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551948759	chr4:131065379-131065380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189714274	chr4:131065383-131065384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542985226	chr4:131067013-131067014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150868912	chr4:131067036-131067037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543232652	chr4:131067111-131067112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561511622	chr4:131067126-131067127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528571840	chr4:131067164-131067165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10518565	chr4:131067174-131067175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565257138	chr4:131067176-131067177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7660978	chr4:131067231-131067232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550812966	chr4:131067242-131067243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115913938	chr4:131067263-131067264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536193878	chr4:131067273-131067274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139370308	chr4:131067322-131067323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150056392	chr4:131067323-131067324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77713304	chr4:131067347-131067348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58603075	chr4:131067447-131067448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558252601	chr4:131067506-131067507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576723948	chr4:131067552-131067553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537451009	chr4:131067563-131067564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369888964	chr4:131067603-131067604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575842904	chr4:131067698-131067699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55898536	chr4:131067728-131067729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555183576	chr4:131067742-131067743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79174180	chr4:131067759-131067760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573500955	chr4:131067786-131067787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17050857	chr4:131067819-131067820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17050858	chr4:131067824-131067825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532682315	chr4:131067829-131067830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544277452	chr4:131067859-131067860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562928502	chr4:131067875-131067876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529923872	chr4:131067905-131067906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548095554	chr4:131067914-131067915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192122899	chr4:131067958-131067959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76116056	chr4:131067975-131067976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552209030	chr4:131067976-131067977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117986537	chr4:131068021-131068022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373092742	chr4:131068037-131068038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548375431	chr4:131068159-131068160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72678194	chr4:131068174-131068175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567608637	chr4:131068195-131068196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536776878	chr4:131068196-131068197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555861605	chr4:131068208-131068209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148610819	chr4:131068227-131068228	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Mental retardation	17847001	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131064600-131065400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:131067000-131070600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:131067800-131069600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:131068000-131070600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:131068400-131070400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:131068600-131069000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:131068600-131069000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:131068600-131069200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:131068600-131069400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:131068600-131069600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:131068600-131070200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:131068600-131070400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:131068600-131070600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:131068800-131069200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:131068800-131069400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:131068800-131069400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:131068800-131069400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:131068800-131069400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:131069000-131070400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:131069200-131069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:131069400-131070000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:131069600-131070000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:131069600-131070200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:131069600-131075000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:131070000-131070600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:131070200-131070400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:131070400-131075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:131070400-131075000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:131070400-131075400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:131070600-131075600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:131070600-131075800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:131070600-131076000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:131075000-131076600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:131075000-131076600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:131075000-131077000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:131075200-131076600	Enhancers	Brain Germinal Matrix	brain
37	chr4:131075400-131076600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:131075600-131076400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:131075800-131076200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:131076000-131076400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:131076000-131076400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:131076600-131077800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:131077800-131079000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:131085600-131088400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:131087200-131087800	Enhancers	Fetal Lung	lung
46	chr4:131089400-131093400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:131094000-131094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:131096600-131099400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:131099200-131099600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:131099200-131099600	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links