Variant report

Variant	nsv595447
Chromosome Location	chr4:133160737-133252054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:133246638..133249812-chr4:133265864..133268563,3	K562	blood:

Extended variants
information (count: 1175 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1175 , 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	rs1499324	chr4:133160737-133160738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181591989	chr4:133160769-133160770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186004096	chr4:133160782-133160783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531405517	chr4:133160786-133160787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548705318	chr4:133160805-133160806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568178628	chr4:133160810-133160811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1499323	chr4:133160840-133160841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1499322	chr4:133160849-133160850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570825740	chr4:133160871-133160872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540161378	chr4:133160901-133160902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556559495	chr4:133160907-133160908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576623032	chr4:133160929-133160930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542046912	chr4:133161004-133161005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554658730	chr4:133161015-133161016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574538068	chr4:133161101-133161102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370199276	chr4:133161130-133161131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540251817	chr4:133161132-133161133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560153393	chr4:133161167-133161168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374445175	chr4:133161251-133161252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532128557	chr4:133161276-133161277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149818963	chr4:133161327-133161328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368609679	chr4:133161330-133161331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531543900	chr4:133161354-133161355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28493696	chr4:133161361-133161362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145882766	chr4:133161396-133161397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189487794	chr4:133161457-133161458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140724618	chr4:133161502-133161503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539736039	chr4:133161513-133161514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570541223	chr4:133161535-133161536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553314085	chr4:133161553-133161554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115115426	chr4:133161559-133161560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13126205	chr4:133161569-133161570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368359435	chr4:133161631-133161632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555595909	chr4:133161646-133161647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555965588	chr4:133161679-133161680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372757393	chr4:133161685-133161686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540361678	chr4:133161747-133161748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181600008	chr4:133161776-133161777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185928857	chr4:133161786-133161787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144474464	chr4:133161792-133161793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562807567	chr4:133161795-133161796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541868217	chr4:133161800-133161801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576232204	chr4:133161812-133161813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146423542	chr4:133161842-133161843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79699941	chr4:133161873-133161874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114628356	chr4:133161891-133161892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191078445	chr4:133161893-133161894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374935714	chr4:133161899-133161900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555133652	chr4:133161931-133161932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183718462	chr4:133161932-133161933	Weak transcription	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133159800-133161600	Enhancers	Fetal Intestine Small	intestine
2	chr4:133160400-133161400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:133160400-133165600	Weak transcription	Stomach Mucosa	stomach
4	chr4:133160600-133165000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:133160800-133161600	Enhancers	HUVEC	blood vessel
6	chr4:133161200-133161600	Enhancers	Dnd41	blood
7	chr4:133161400-133161600	Enhancers	Fetal Intestine Large	intestine
8	chr4:133161600-133165600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:133165400-133167000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:133165600-133166200	Enhancers	Stomach Mucosa	stomach
11	chr4:133165600-133167000	Enhancers	Fetal Intestine Small	intestine
12	chr4:133165800-133167000	Enhancers	Fetal Lung	lung
13	chr4:133166600-133166800	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:133167000-133169600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:133183000-133184800	Weak transcription	Fetal Thymus	thymus
16	chr4:133184000-133190000	Enhancers	Dnd41	blood
17	chr4:133184800-133185600	Enhancers	Fetal Lung	lung
18	chr4:133184800-133185600	Enhancers	Fetal Thymus	thymus
19	chr4:133185000-133185600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:133185600-133187600	Weak transcription	Fetal Lung	lung
21	chr4:133185600-133187800	Weak transcription	Fetal Thymus	thymus
22	chr4:133187400-133188600	Enhancers	Primary T cells from cord blood	blood
23	chr4:133187600-133188000	Enhancers	Fetal Lung	lung
24	chr4:133187600-133188400	Enhancers	Primary B cells from cord blood	blood
25	chr4:133187800-133188600	Enhancers	Fetal Thymus	thymus
26	chr4:133188200-133188800	Enhancers	Thymus	Thymus
27	chr4:133188600-133190000	Weak transcription	Fetal Thymus	thymus
28	chr4:133190000-133190400	Weak transcription	Dnd41	blood
29	chr4:133190000-133190800	ZNF genes & repeats	Fetal Thymus	thymus
30	chr4:133190400-133191000	ZNF genes & repeats	Dnd41	blood
31	chr4:133190600-133190800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:133190600-133191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:133200000-133200400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:133201200-133201600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:133201600-133205600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:133204200-133204600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:133204200-133204600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:133204600-133205800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:133205600-133206400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:133205600-133207400	ZNF genes & repeats	Dnd41	blood
41	chr4:133205800-133206000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr4:133205800-133206200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr4:133217600-133218200	Active TSS	Primary B cells from cord blood	blood
44	chr4:133217600-133219200	Enhancers	Fetal Lung	lung
45	chr4:133217800-133218200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:133218200-133218800	Weak transcription	Primary B cells from cord blood	blood
47	chr4:133218200-133221000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:133218400-133218800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:133218400-133219000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:133218800-133219600	Enhancers	Primary B cells from cord blood	blood

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