Variant report

Variant	nsv508296
Chromosome Location	chr4:87636350-87667372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87666468..87669135-chr4:87669652..87672060,2	MCF-7	breast:
2	chr4:87635752..87637594-chr4:87790977..87792826,2	K562	blood:
3	chr4:87592727..87594779-chr4:87641743..87643865,2	MCF-7	breast:
4	chr4:87657826..87659557-chr4:87666648..87668755,2	K562	blood:
5	chr4:87657826..87659557-chr4:87666648..87668755,2	K562	blood:

Variant related genes	Relation type
ENSG00000243312	chromatin interactions

Extended variants
information (count: 1110 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9994421	chr4:87636369-87636370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201577845	chr4:87636381-87636382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199750837	chr4:87636387-87636388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369481925	chr4:87636388-87636389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190283931	chr4:87636450-87636451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568557392	chr4:87636534-87636535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115235226	chr4:87636556-87636557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141335689	chr4:87636567-87636568	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555929940	chr4:87636591-87636592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533161479	chr4:87636613-87636614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145171382	chr4:87636635-87636636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182527409	chr4:87636650-87636651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78694079	chr4:87636651-87636652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573840080	chr4:87636694-87636695	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367600725	chr4:87636736-87636737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568719429	chr4:87636777-87636778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557390050	chr4:87636806-87636807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140319348	chr4:87636816-87636817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575712565	chr4:87636913-87636914	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537864172	chr4:87636938-87636939	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146873587	chr4:87636954-87636955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557344116	chr4:87636973-87636974	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10516779	chr4:87636986-87636987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370747997	chr4:87637016-87637017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188090614	chr4:87637043-87637044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192379802	chr4:87637119-87637120	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201467109	chr4:87637126-87637127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551723713	chr4:87637130-87637131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140249820	chr4:87637142-87637143	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550863425	chr4:87637150-87637151	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184337943	chr4:87637164-87637165	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562100523	chr4:87637207-87637208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188881650	chr4:87637230-87637231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551033243	chr4:87637368-87637369	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9997453	chr4:87637390-87637391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192467511	chr4:87637397-87637398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548898019	chr4:87637450-87637451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116465410	chr4:87637516-87637517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184716736	chr4:87637522-87637523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553645982	chr4:87637538-87637539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10516780	chr4:87637561-87637562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs571909620	chr4:87637565-87637566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145242980	chr4:87637583-87637584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367688167	chr4:87637607-87637608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189089032	chr4:87637627-87637628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368315560	chr4:87637657-87637658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181468750	chr4:87637658-87637659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539705133	chr4:87637687-87637688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376778291	chr4:87637688-87637689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369390845	chr4:87637708-87637709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87574600-87644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:87579200-87642600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:87579400-87644400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:87586400-87643200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:87591800-87639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:87591800-87641000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:87592400-87656400	Weak transcription	Adipose Nuclei	Adipose
8	chr4:87593800-87641400	Weak transcription	Brain Angular Gyrus	brain
9	chr4:87594400-87642600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:87594400-87659800	Weak transcription	Ovary	ovary
11	chr4:87594800-87639200	Weak transcription	Fetal Kidney	kidney
12	chr4:87595200-87638200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:87595200-87651200	Weak transcription	Fetal Stomach	stomach
14	chr4:87600400-87639200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:87604800-87638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:87606800-87641000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:87610400-87639600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:87611400-87638200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:87623400-87641200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:87623400-87641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:87623400-87643000	Weak transcription	Fetal Lung	lung
22	chr4:87623600-87636400	Weak transcription	NHDF-Ad	bronchial
23	chr4:87623600-87637000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:87623600-87639400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:87624800-87638600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:87625200-87651600	Weak transcription	Esophagus	oesophagus
27	chr4:87625400-87638200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:87625400-87643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:87628400-87637200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:87628600-87636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:87628600-87638000	Weak transcription	HMEC	breast
32	chr4:87628800-87641600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:87628800-87641800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:87630400-87636400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:87631000-87637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:87631200-87712200	Weak transcription	Aorta	Aorta
37	chr4:87631600-87636800	Weak transcription	NHEK	skin
38	chr4:87634200-87640000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:87635200-87641800	Weak transcription	NHLF	lung
40	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
41	chr4:87635400-87636400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:87635400-87648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:87635600-87636400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:87635600-87651600	Weak transcription	Lung	lung
45	chr4:87635800-87636600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:87636400-87639600	Strong transcription	NHDF-Ad	bronchial
47	chr4:87636400-87639800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:87636400-87641200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:87636400-87641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:87636400-87644600	Weak transcription	Fetal Intestine Small	intestine

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