Variant report

Variant	nsv822561
Chromosome Location	chr4:57736121-57747867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57741072..57742982-chr4:57773976..57775914,2	MCF-7	breast:
2	chr4:57739739..57741859-chr4:57787716..57790599,2	MCF-7	breast:
3	chr4:57741268..57742885-chr4:57744853..57746606,2	K562	blood:
4	chr4:57741268..57742885-chr4:57744853..57746606,2	K562	blood:
5	chr4:57301034..57302862-chr4:57745174..57747943,2	K562	blood:
6	chr4:57740477..57743269-chr4:57772989..57775618,2	MCF-7	breast:
7	chr4:57734226..57738825-chr4:57772545..57776428,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084093	chromatin interactions
ENSG00000128050	chromatin interactions
ENSG00000128059	chromatin interactions

Extended variants
information (count: 519 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533857633	chr4:57736131-57736132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540461598	chr4:57736137-57736138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111996778	chr4:57736149-57736150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377693617	chr4:57736220-57736221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577369058	chr4:57736221-57736222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185291084	chr4:57736229-57736230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563054375	chr4:57736230-57736231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531568158	chr4:57736278-57736279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189956956	chr4:57736279-57736280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111657625	chr4:57736288-57736289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6849007	chr4:57736306-57736307	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547580859	chr4:57736315-57736316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200397683	chr4:57736326-57736327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116526542	chr4:57736335-57736336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539274080	chr4:57736369-57736370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181879766	chr4:57736454-57736455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186319649	chr4:57736458-57736459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575330594	chr4:57736496-57736497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535427376	chr4:57736517-57736518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555443232	chr4:57736572-57736573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572167735	chr4:57736594-57736595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542426530	chr4:57736612-57736613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534666545	chr4:57736648-57736649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546271623	chr4:57736649-57736650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557576011	chr4:57736697-57736698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192031077	chr4:57736799-57736800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546099741	chr4:57736801-57736802	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562818884	chr4:57736830-57736831	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576359948	chr4:57736870-57736871	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183478473	chr4:57736926-57736927	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1708762	chr4:57736968-57736969	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527697878	chr4:57736983-57736984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1708763	chr4:57737041-57737042	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71657232	chr4:57737053-57737054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77382400	chr4:57737054-57737055	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34712175	chr4:57737070-57737071	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs71601652	chr4:57737084-57737085	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1708764	chr4:57737085-57737086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368298692	chr4:57737093-57737094	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs60003185	chr4:57737101-57737102	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536141164	chr4:57737212-57737213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs60591079	chr4:57737234-57737235	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139635117	chr4:57737253-57737254	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376485235	chr4:57737257-57737258	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535796566	chr4:57737263-57737264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554930794	chr4:57737279-57737280	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs17087212	chr4:57737282-57737283	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188418281	chr4:57737315-57737316	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534335879	chr4:57737403-57737404	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557805037	chr4:57737456-57737457	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57727800-57737600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57727800-57740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:57736000-57736600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:57736400-57736800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:57736400-57737200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:57736400-57737200	Enhancers	Fetal Muscle Trunk	muscle
7	chr4:57736400-57737400	Enhancers	Fetal Muscle Leg	muscle
8	chr4:57736600-57737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:57736800-57738000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:57736800-57738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:57737000-57737200	Enhancers	Adipose Nuclei	Adipose
12	chr4:57737000-57737400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:57737000-57737400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:57737000-57737400	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:57737000-57737400	Enhancers	HSMM	muscle
16	chr4:57737000-57737800	Enhancers	Fetal Brain Female	brain
17	chr4:57737000-57738000	Enhancers	Fetal Brain Male	brain
18	chr4:57737000-57738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:57737200-57737400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr4:57737200-57737400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
21	chr4:57737200-57737400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:57737200-57737400	Enhancers	Brain Substantia Nigra	brain
23	chr4:57737200-57737600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:57737200-57737600	Enhancers	Brain Germinal Matrix	brain
25	chr4:57737200-57737600	Enhancers	Brain Hippocampus Middle	brain
26	chr4:57737200-57737600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:57737200-57737600	Enhancers	Fetal Lung	lung
28	chr4:57737200-57737600	Active TSS	Fetal Muscle Trunk	muscle
29	chr4:57737200-57737600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr4:57737200-57737800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr4:57737200-57737800	Enhancers	Brain Angular Gyrus	brain
32	chr4:57737200-57737800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr4:57737200-57738000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:57737200-57738000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:57737200-57738000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:57737200-57738000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:57737200-57738000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:57737200-57738000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:57737200-57738000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr4:57737200-57738000	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:57737200-57738000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr4:57737200-57738000	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr4:57737200-57738000	Enhancers	Right Atrium	heart
44	chr4:57737200-57738000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:57737200-57738000	Enhancers	Dnd41	blood
46	chr4:57737200-57738000	Enhancers	HSMMtube	muscle
47	chr4:57737200-57738000	Enhancers	NHDF-Ad	bronchial
48	chr4:57737200-57738200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:57737200-57738200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:57737200-57738200	Enhancers	HUES6 Cell Line	embryonic stem cell

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