Variant report

Variant	nsv1004688
Chromosome Location	chr4:86970230-86983232
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	chr4:86974348..86976679-chr4:86978244..86980026,2	MCF-7	breast:
2	chr4:86974348..86976679-chr4:86978244..86980026,2	MCF-7	breast:

Extended variants
information (count: 412 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531164682	chr4:86970237-86970238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77731184	chr4:86970253-86970254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376164160	chr4:86970263-86970264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370803254	chr4:86970282-86970283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565274503	chr4:86970285-86970286	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532648101	chr4:86970296-86970297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138639133	chr4:86970302-86970303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182790099	chr4:86970353-86970354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568352015	chr4:86970388-86970389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536765995	chr4:86970398-86970399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17008675	chr4:86970401-86970402	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs570068110	chr4:86970465-86970466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs36051698	chr4:86970500-86970501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142812403	chr4:86970704-86970705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558976431	chr4:86970730-86970731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188315259	chr4:86970731-86970732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12640230	chr4:86970749-86970750	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78632613	chr4:86970761-86970762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368526626	chr4:86970893-86970894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146053456	chr4:86970955-86970956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75826000	chr4:86971039-86971040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543389068	chr4:86971040-86971041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575726650	chr4:86971045-86971046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191065575	chr4:86971061-86971062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564514930	chr4:86971062-86971063	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576135635	chr4:86971068-86971069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111456628	chr4:86971086-86971087	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140095159	chr4:86971087-86971088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541325992	chr4:86971088-86971089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559904425	chr4:86971094-86971095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367561978	chr4:86971121-86971122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368272487	chr4:86971122-86971123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397779350	chr4:86971125-86971126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530186536	chr4:86971159-86971160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548760123	chr4:86971165-86971166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182861566	chr4:86971166-86971167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561937882	chr4:86971208-86971209	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531003787	chr4:86971231-86971232	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552625661	chr4:86971286-86971287	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116391530	chr4:86971312-86971313	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372868213	chr4:86971314-86971315	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367811719	chr4:86971483-86971484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553738443	chr4:86971580-86971581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143710672	chr4:86971610-86971611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187455772	chr4:86971624-86971625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554325010	chr4:86971800-86971801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144716302	chr4:86971801-86971802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574768691	chr4:86971807-86971808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372029737	chr4:86971809-86971810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193292530	chr4:86971815-86971816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86916800-86985400	Weak transcription	Ovary	ovary
2	chr4:86936000-86975600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:86936400-86990600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:86949200-86988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:86955000-86985000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:86955200-86971000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:86955200-87003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:86958200-86975600	Weak transcription	Fetal Brain Female	brain
9	chr4:86958400-86992600	Weak transcription	Fetal Kidney	kidney
10	chr4:86961200-86979400	Weak transcription	Fetal Stomach	stomach
11	chr4:86961200-86981000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:86963600-86974400	Weak transcription	Fetal Lung	lung
13	chr4:86963600-86988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:86965200-86976200	Weak transcription	Brain Anterior Caudate	brain
15	chr4:86965200-86985800	Weak transcription	Adipose Nuclei	Adipose
16	chr4:86965200-86987000	Weak transcription	Brain Substantia Nigra	brain
17	chr4:86967200-86971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:86968800-86970400	Enhancers	NHDF-Ad	bronchial
19	chr4:86969000-86972000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:86969200-86972600	Enhancers	HMEC	breast
21	chr4:86969800-86971400	Weak transcription	NHEK	skin
22	chr4:86969800-86971600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:86970000-86970800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:86970000-86988400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:86970200-86970400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:86970200-86977000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:86970400-86975400	Weak transcription	NHDF-Ad	bronchial
28	chr4:86970400-86975600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:86970800-86978000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:86971000-86971800	Strong transcription	Brain Hippocampus Middle	brain
31	chr4:86971200-86971400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:86971400-86972200	Enhancers	NHEK	skin
33	chr4:86971600-86972000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:86971800-87003800	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:86972000-86975600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:86972200-86977000	Weak transcription	NHEK	skin
37	chr4:86975200-86976800	Enhancers	Fetal Brain Male	brain
38	chr4:86975200-87003600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:86975400-86976400	Enhancers	HSMMtube	muscle
40	chr4:86975400-86977800	Enhancers	NHDF-Ad	bronchial
41	chr4:86975600-86976200	Enhancers	Brain Germinal Matrix	brain
42	chr4:86975600-86976400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:86975600-86976400	Enhancers	Fetal Brain Female	brain
44	chr4:86975600-86977800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:86976000-86984200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:86976200-86976800	Enhancers	Brain Anterior Caudate	brain
47	chr4:86976200-86987800	Weak transcription	Brain Germinal Matrix	brain
48	chr4:86976400-86977600	Weak transcription	HSMMtube	muscle
49	chr4:86976400-87000200	Weak transcription	Fetal Brain Female	brain
50	chr4:86976800-86977200	Weak transcription	Brain Anterior Caudate	brain

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