Variant report

Variant	nsv966294
Chromosome Location	chr4:88128442-88130306
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	chr4:88127634..88129911-chr4:88140164..88142825,2	MCF-7	breast:
2	chr4:88125915..88129051-chr4:88140439..88142912,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145332	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528038289	chr4:88128456-88128457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111547554	chr4:88128460-88128461	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546294130	chr4:88128474-88128475	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567813194	chr4:88128496-88128497	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145932699	chr4:88128509-88128510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550729230	chr4:88128510-88128511	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568930263	chr4:88128517-88128518	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185049143	chr4:88128519-88128520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558041580	chr4:88128527-88128528	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189819150	chr4:88128545-88128546	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61734704	chr4:88128548-88128549	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553542680	chr4:88128599-88128600	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543708585	chr4:88128603-88128604	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs202085491	chr4:88128618-88128619	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574862850	chr4:88128634-88128635	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139824496	chr4:88128653-88128654	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186989455	chr4:88128661-88128662	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557555957	chr4:88128687-88128688	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529552412	chr4:88128709-88128710	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182430062	chr4:88128710-88128711	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56119614	chr4:88128725-88128726	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564394182	chr4:88128729-88128730	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572551766	chr4:88128747-88128748	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539833734	chr4:88128764-88128765	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186403701	chr4:88128806-88128807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191655348	chr4:88128819-88128820	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183432642	chr4:88128824-88128825	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562712426	chr4:88128825-88128826	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374583479	chr4:88128826-88128827	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2035404	chr4:88128862-88128863	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs376416016	chr4:88128890-88128891	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551745088	chr4:88128908-88128909	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566760782	chr4:88128954-88128955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188835671	chr4:88128964-88128965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554100940	chr4:88128967-88128968	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112267712	chr4:88128991-88128992	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191928807	chr4:88129033-88129034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528634079	chr4:88129067-88129068	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535963084	chr4:88129071-88129072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183526386	chr4:88129072-88129073	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575798462	chr4:88129096-88129097	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12649293	chr4:88129105-88129106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573186007	chr4:88129134-88129135	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144616674	chr4:88129138-88129139	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186718044	chr4:88129181-88129182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148442350	chr4:88129182-88129183	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142614439	chr4:88129189-88129190	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557546343	chr4:88129201-88129202	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557676335	chr4:88129209-88129210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562438720	chr4:88129231-88129232	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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
lymphocytic leukemia	21291569	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
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
2	chr4:88082000-88129200	Weak transcription	Esophagus	oesophagus
3	chr4:88089600-88131000	Weak transcription	Ovary	ovary
4	chr4:88091800-88128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:88091800-88133600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:88092200-88134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:88097600-88140400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:88109600-88133600	Weak transcription	Fetal Lung	lung
9	chr4:88114600-88129000	Weak transcription	K562	blood
10	chr4:88115800-88131000	Weak transcription	Gastric	stomach
11	chr4:88116400-88138000	Weak transcription	HepG2	liver
12	chr4:88119400-88132600	Weak transcription	Psoas Muscle	Psoas
13	chr4:88121200-88130400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:88121200-88134600	Weak transcription	Pancreas	Pancrea
15	chr4:88122400-88140000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:88124800-88129400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:88125400-88134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:88125400-88134800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:88125400-88140200	Weak transcription	Fetal Intestine Large	intestine
20	chr4:88125600-88130200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:88125600-88134600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:88125800-88134600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:88126000-88132800	Weak transcription	Fetal Heart	heart
24	chr4:88126600-88128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:88126800-88130400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:88126800-88130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:88126800-88140000	Weak transcription	Fetal Stomach	stomach
28	chr4:88127200-88140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:88127400-88129200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:88127400-88130000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:88127600-88128800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:88127600-88129000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:88127800-88132200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:88128000-88128600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:88128000-88128600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:88128000-88128800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr4:88128000-88128800	Strong transcription	Brain Germinal Matrix	brain
38	chr4:88128000-88128800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr4:88128000-88129200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:88128000-88129600	Strong transcription	Primary T cells from cord blood	blood
41	chr4:88128000-88130200	Weak transcription	Primary B cells from cord blood	blood
42	chr4:88128200-88128600	Weak transcription	Lung	lung
43	chr4:88128200-88129000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:88128200-88129000	Strong transcription	Spleen	Spleen
45	chr4:88128200-88129400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:88128200-88129800	Strong transcription	Fetal Intestine Small	intestine
47	chr4:88128200-88130200	Weak transcription	Fetal Brain Female	brain
48	chr4:88128400-88129000	Enhancers	Right Ventricle	heart
49	chr4:88128400-88130400	Weak transcription	Liver	Liver
50	chr4:88128400-88130400	Weak transcription	Rectal Mucosa Donor 29	rectum

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