Variant report

Variant	nsv967748
Chromosome Location	chr4:57800551-57802516
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	chr4:57773548..57775615-chr4:57799792..57802560,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	REST	hsa-miR-9-5p	chr4:57801768-57801774

Variant related genes	Relation type
ENSG00000084093	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138876445	chr4:57800570-57800571	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs57467543	chr4:57800582-57800583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190469406	chr4:57800598-57800599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565094052	chr4:57800628-57800629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141926610	chr4:57800808-57800809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544429034	chr4:57800811-57800812	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561356399	chr4:57800847-57800848	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529945966	chr4:57800848-57800849	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546793039	chr4:57800885-57800886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560470495	chr4:57800916-57800917	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34341200	chr4:57800917-57800918	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567183828	chr4:57800925-57800926	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532271391	chr4:57800942-57800943	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374292810	chr4:57800968-57800969	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527842667	chr4:57801019-57801020	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552158151	chr4:57801123-57801124	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568713231	chr4:57801138-57801139	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537844004	chr4:57801170-57801171	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532015797	chr4:57801175-57801176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56283756	chr4:57801190-57801191	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78136248	chr4:57801207-57801208	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183044198	chr4:57801250-57801251	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536471342	chr4:57801305-57801306	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553117287	chr4:57801332-57801333	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573493147	chr4:57801374-57801375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187055162	chr4:57801432-57801433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559203164	chr4:57801439-57801440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374331644	chr4:57801440-57801441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544599688	chr4:57801453-57801454	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192732621	chr4:57801472-57801473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146294652	chr4:57801531-57801532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540442682	chr4:57801547-57801548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560347654	chr4:57801587-57801588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570414848	chr4:57801618-57801619	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534157866	chr4:57801623-57801624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532439851	chr4:57801634-57801635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182754814	chr4:57801644-57801645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562787052	chr4:57801645-57801646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531236479	chr4:57801654-57801655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9055	chr4:57801705-57801706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs555861786	chr4:57801747-57801748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577892153	chr4:57801787-57801788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187782640	chr4:57801798-57801799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570907911	chr4:57801864-57801865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28740801	chr4:57801896-57801897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1043215	chr4:57801922-57801923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539216777	chr4:57801972-57801973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559017822	chr4:57801986-57801987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575869976	chr4:57802032-57802033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369623836	chr4:57802069-57802070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
2	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:57778400-57801000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:57779000-57804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:57781800-57801400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:57783200-57801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:57783800-57802000	Strong transcription	Dnd41	blood
10	chr4:57785400-57800800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:57789800-57803200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:57794800-57802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:57796000-57800600	Strong transcription	HUVEC	blood vessel
16	chr4:57796800-57803400	Weak transcription	Hela-S3	cervix
17	chr4:57797600-57805400	Weak transcription	Brain Germinal Matrix	brain
18	chr4:57797600-57805400	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:57797600-57807000	Weak transcription	Gastric	stomach
20	chr4:57797600-57811800	Weak transcription	Stomach Mucosa	stomach
21	chr4:57797800-57803600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:57798000-57805800	Weak transcription	Fetal Brain Female	brain
23	chr4:57798000-57806000	Weak transcription	Brain Substantia Nigra	brain
24	chr4:57798000-57806400	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:57798000-57809400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:57798000-57814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:57798200-57802200	Weak transcription	Fetal Intestine Small	intestine
28	chr4:57798200-57802200	Weak transcription	Fetal Stomach	stomach
29	chr4:57798200-57802400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:57798200-57802400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:57798200-57802400	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:57798200-57802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:57798200-57802600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:57798200-57802800	Weak transcription	Thymus	Thymus
35	chr4:57798200-57803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:57798200-57803000	Weak transcription	Liver	Liver
37	chr4:57798200-57803000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:57798200-57803000	Weak transcription	Spleen	Spleen
39	chr4:57798200-57803200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:57798200-57803200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:57798200-57803200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:57798200-57803200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:57798200-57803200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:57798200-57803200	Weak transcription	HSMMtube	muscle
45	chr4:57798200-57803200	Weak transcription	NHLF	lung
46	chr4:57798200-57803400	Weak transcription	Aorta	Aorta
47	chr4:57798200-57803400	Weak transcription	Colonic Mucosa	Colon
48	chr4:57798200-57803400	Weak transcription	Ovary	ovary
49	chr4:57798200-57803400	Weak transcription	A549	lung
50	chr4:57798200-57803600	Weak transcription	Lung	lung

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