Variant report

Variant	nsv980204
Chromosome Location	chr4:53493343-53496331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:53494663-53494775	K562	blood:	n/a	chr4:53494705-53494722 chr4:53494708-53494721
2	POLR2A	chr4:53494336-53494404	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:53494281-53494326	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:53494397-53494420	Gliobla	brain:	n/a	n/a
5	POLR2A	chr4:53496083-53496108	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53492777..53495734-chr4:53523846..53526517,2	K562	blood:
2	chr4:53491338..53494624-chr4:53578628..53580655,4	K562	blood:

Variant related genes	Relation type
USP46	TF binding region
ENSG00000212588	chromatin interactions
ENSG00000264585	chromatin interactions
ENSG00000109189	chromatin interactions
ENSG00000226950	chromatin interactions
ENSG00000248866	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544919670	chr4:53493415-53493416	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs545609215	chr4:53493439-53493440	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs74410415	chr4:53493456-53493457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs180957019	chr4:53493474-53493475	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs185418969	chr4:53493478-53493479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs561980669	chr4:53493506-53493507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs527967893	chr4:53493547-53493548	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs541387133	chr4:53493556-53493557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs376653639	chr4:53493589-53493590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs563499917	chr4:53493592-53493593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs138824829	chr4:53493671-53493672	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs141449624	chr4:53493706-53493707	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs190279034	chr4:53493740-53493741	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs568973408	chr4:53493765-53493766	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs182528168	chr4:53493775-53493776	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs188491204	chr4:53493807-53493808	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs191637994	chr4:53493810-53493811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs533805093	chr4:53493819-53493820	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs553615968	chr4:53493826-53493827	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs570423418	chr4:53493849-53493850	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs539200006	chr4:53493875-53493876	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs114074951	chr4:53493894-53493895	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs183936706	chr4:53493895-53493896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs10001387	chr4:53493910-53493911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150859974	chr4:53493949-53493950	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs572319765	chr4:53494008-53494009	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs541450706	chr4:53494016-53494017	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs188883716	chr4:53494028-53494029	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs139135004	chr4:53494068-53494069	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs544022555	chr4:53494108-53494109	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs191363028	chr4:53494162-53494163	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs373750548	chr4:53494176-53494177	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs61761593	chr4:53494181-53494182	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531415307	chr4:53494205-53494206	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs17475800	chr4:53494206-53494207	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs376947798	chr4:53494215-53494216	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs28503210	chr4:53494241-53494242	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372406140	chr4:53494278-53494279	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs115007179	chr4:53494283-53494284	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs546992558	chr4:53494303-53494304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs6819974	chr4:53494362-53494363	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs539387153	chr4:53494390-53494391	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs149942848	chr4:53494393-53494394	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs569777227	chr4:53494442-53494443	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs549402274	chr4:53494537-53494538	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs34622683	chr4:53494541-53494542	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs535658454	chr4:53494546-53494547	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs545299007	chr4:53494549-53494550	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs199736686	chr4:53494550-53494551	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs572012176	chr4:53494551-53494552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Cancer	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53451800-53501400	Weak transcription	Small Intestine	intestine
2	chr4:53456000-53506400	Weak transcription	HUVEC	blood vessel
3	chr4:53463000-53507200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:53463800-53494000	Weak transcription	NHLF	lung
5	chr4:53464200-53494800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:53464200-53523600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:53468200-53510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:53468600-53493600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:53468600-53497600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:53472600-53499000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:53473000-53506800	Weak transcription	Primary T cells from cord blood	blood
12	chr4:53473600-53507200	Weak transcription	Osteobl	bone
13	chr4:53475000-53501200	Weak transcription	Gastric	stomach
14	chr4:53476000-53494200	Weak transcription	Lung	lung
15	chr4:53476000-53496200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:53476000-53502200	Weak transcription	Pancreas	Pancrea
17	chr4:53476000-53507400	Weak transcription	HSMM	muscle
18	chr4:53476600-53501600	Weak transcription	HepG2	liver
19	chr4:53476800-53494200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:53476800-53494200	Weak transcription	HMEC	breast
21	chr4:53477600-53510200	Weak transcription	Esophagus	oesophagus
22	chr4:53479400-53494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:53479800-53499800	Weak transcription	Right Atrium	heart
24	chr4:53480800-53499800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:53480800-53501200	Weak transcription	GM12878-XiMat	blood
26	chr4:53484600-53508400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:53485200-53498000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:53485400-53495800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:53485400-53497600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:53485400-53499400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:53485800-53493800	Weak transcription	Brain Germinal Matrix	brain
32	chr4:53485800-53494000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:53485800-53494200	Weak transcription	Brain Angular Gyrus	brain
34	chr4:53485800-53501600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:53485800-53507600	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:53485800-53508400	Weak transcription	Stomach Mucosa	stomach
37	chr4:53486000-53494200	Weak transcription	Psoas Muscle	Psoas
38	chr4:53486000-53507200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:53486000-53507200	Weak transcription	Brain Substantia Nigra	brain
40	chr4:53486000-53507200	Weak transcription	Fetal Intestine Small	intestine
41	chr4:53486200-53507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:53486400-53494800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:53486400-53499200	Weak transcription	Fetal Lung	lung
44	chr4:53486600-53508800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:53487000-53494000	Weak transcription	Fetal Brain Male	brain
46	chr4:53487400-53504800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:53487600-53493400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:53488000-53496800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:53488600-53496600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:53488800-53494600	Strong transcription	Fetal Intestine Large	intestine

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