Variant report

Variant	nsv880021
Chromosome Location	chr4:133189144-133278913
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:133265507..133268108-chr4:133268991..133271558,3	K562	blood:
2	chr4:133246638..133249812-chr4:133265864..133268563,3	K562	blood:
3	chr4:133254539..133258188-chr4:133265340..133266888,3	K562	blood:
4	chr4:133265507..133268108-chr4:133268991..133271558,3	K562	blood:
5	chr4:133264521..133268108-chr4:133268991..133272057,6	K562	blood:
6	chr4:133263144..133265552-chr4:133295032..133296835,2	K562	blood:
7	chr4:133246638..133249812-chr4:133265864..133268563,3	K562	blood:
8	chr4:133254539..133258188-chr4:133265340..133266888,3	K562	blood:
9	chr4:133264521..133268108-chr4:133268991..133272057,6	K562	blood:

No data

Extended variants
information (count: 926 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17048863	chr4:133189144-133189145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539228882	chr4:133189181-133189182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536822877	chr4:133189300-133189301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73853288	chr4:133189323-133189324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570083301	chr4:133189386-133189387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535928959	chr4:133189388-133189389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150416062	chr4:133189440-133189441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570474220	chr4:133189452-133189453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17048864	chr4:133189469-133189470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558124143	chr4:133189537-133189538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191621055	chr4:133189543-133189544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578142515	chr4:133189556-133189557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138275456	chr4:133189559-133189560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563891887	chr4:133189596-133189597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62317733	chr4:133189687-133189688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575761405	chr4:133189765-133189766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567683268	chr4:133189783-133189784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551031075	chr4:133189837-133189838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142527074	chr4:133189850-133189851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146916463	chr4:133189898-133189899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184203098	chr4:133189943-133189944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527238249	chr4:133189949-133189950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188145272	chr4:133189952-133189953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376918927	chr4:133189995-133189996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570996591	chr4:133190017-133190018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564191235	chr4:133190054-133190055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371539691	chr4:133190084-133190085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533670804	chr4:133190185-133190186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546127810	chr4:133190204-133190205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569826964	chr4:133190215-133190216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369663205	chr4:133190272-133190273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549456019	chr4:133190333-133190334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180942644	chr4:133190356-133190357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553289071	chr4:133190401-133190402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538709790	chr4:133190402-133190403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534990044	chr4:133190407-133190408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs558444589	chr4:133190452-133190453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs139328816	chr4:133190477-133190478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142717855	chr4:133190485-133190486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs143455340	chr4:133190506-133190507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184580677	chr4:133190527-133190528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541535792	chr4:133190534-133190535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs147974296	chr4:133190559-133190560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs571723209	chr4:133190599-133190600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs373057534	chr4:133190624-133190625	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540704045	chr4:133190626-133190627	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556027714	chr4:133190635-133190636	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533119281	chr4:133190636-133190637	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550037798	chr4:133190693-133190694	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141684502	chr4:133190740-133190741	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133184000-133190000	Enhancers	Dnd41	blood
2	chr4:133188600-133190000	Weak transcription	Fetal Thymus	thymus
3	chr4:133190000-133190400	Weak transcription	Dnd41	blood
4	chr4:133190000-133190800	ZNF genes & repeats	Fetal Thymus	thymus
5	chr4:133190400-133191000	ZNF genes & repeats	Dnd41	blood
6	chr4:133190600-133190800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:133190600-133191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:133200000-133200400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:133201200-133201600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:133201600-133205600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:133204200-133204600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:133204200-133204600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:133204600-133205800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:133205600-133206400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:133205600-133207400	ZNF genes & repeats	Dnd41	blood
16	chr4:133205800-133206000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr4:133205800-133206200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr4:133217600-133218200	Active TSS	Primary B cells from cord blood	blood
19	chr4:133217600-133219200	Enhancers	Fetal Lung	lung
20	chr4:133217800-133218200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:133218200-133218800	Weak transcription	Primary B cells from cord blood	blood
22	chr4:133218200-133221000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:133218400-133218800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:133218400-133219000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:133218800-133219600	Enhancers	Primary B cells from cord blood	blood
26	chr4:133219200-133220600	Weak transcription	Fetal Lung	lung
27	chr4:133220600-133221600	Enhancers	Fetal Lung	lung
28	chr4:133221000-133221400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:133221600-133222400	Weak transcription	Fetal Lung	lung
30	chr4:133222400-133222600	Enhancers	Fetal Lung	lung
31	chr4:133222600-133224800	Weak transcription	Fetal Lung	lung
32	chr4:133224800-133225000	Enhancers	Fetal Lung	lung
33	chr4:133234400-133235400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:133235000-133235400	Enhancers	Brain Anterior Caudate	brain
35	chr4:133236800-133237000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:133237000-133237200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:133242200-133242400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:133254000-133255200	Enhancers	NHLF	lung
39	chr4:133254400-133255600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:133254800-133255600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:133254800-133255600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:133265000-133265200	Enhancers	Hela-S3	cervix
43	chr4:133265200-133265400	Enhancers	Placenta	Placenta
44	chr4:133265200-133265600	Flanking Active TSS	Hela-S3	cervix
45	chr4:133265200-133267200	Active TSS	K562	blood
46	chr4:133265400-133265600	Flanking Active TSS	Placenta	Placenta
47	chr4:133265600-133267000	Active TSS	Placenta	Placenta
48	chr4:133265600-133267000	Active TSS	Hela-S3	cervix
49	chr4:133266200-133266600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr4:133266400-133266600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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