Variant report

Variant	nsv967999
Chromosome Location	chr4:78991248-78995210
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	chr4:78982293..78984651-chr4:78992521..78995488,2	MCF-7	breast:

Extended variants
information (count: 132 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112785896	chr4:78991282-78991283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72858745	chr4:78991286-78991287	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34736498	chr4:78991311-78991312	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200300517	chr4:78991336-78991337	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536982944	chr4:78991349-78991350	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553387539	chr4:78991367-78991368	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374251684	chr4:78991391-78991392	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557991461	chr4:78991410-78991411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34910696	chr4:78991411-78991412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546266357	chr4:78991412-78991413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528632201	chr4:78991414-78991415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397994123	chr4:78991428-78991429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202181538	chr4:78991429-78991430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527576881	chr4:78991465-78991466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78961459	chr4:78991475-78991476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566891611	chr4:78991483-78991484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28367528	chr4:78991522-78991523	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4340818	chr4:78991592-78991593	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573299426	chr4:78991602-78991603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28520643	chr4:78991626-78991627	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116337489	chr4:78991667-78991668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140881128	chr4:78991673-78991674	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4639099	chr4:78991752-78991753	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528047907	chr4:78991757-78991758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550963578	chr4:78991813-78991814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374536116	chr4:78991826-78991827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10000964	chr4:78991849-78991850	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550877124	chr4:78991856-78991857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150177367	chr4:78991875-78991876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562167554	chr4:78991901-78991902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186986365	chr4:78991935-78991936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553674742	chr4:78991977-78991978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573583009	chr4:78991998-78991999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138933496	chr4:78992097-78992098	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141305889	chr4:78992100-78992101	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146987964	chr4:78992105-78992106	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555135848	chr4:78992130-78992131	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192489951	chr4:78992178-78992179	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13106612	chr4:78992304-78992305	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563322346	chr4:78992318-78992319	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573743860	chr4:78992368-78992369	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113378115	chr4:78992375-78992376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542434408	chr4:78992388-78992389	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180822912	chr4:78992409-78992410	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186217592	chr4:78992418-78992419	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550959898	chr4:78992503-78992504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9284616	chr4:78992531-78992532	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9284617	chr4:78992568-78992569	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs550617109	chr4:78992654-78992655	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567271015	chr4:78992691-78992692	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Glioblastoma multiforme	21922591	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
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78980800-78998200	Weak transcription	Pancreas	Pancrea
2	chr4:78981000-78995600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:78981200-79016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:78982200-78998200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:78983400-78996000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:78983400-79001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:78986200-78995600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:78987000-78995600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:78987200-78993200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:78987400-78994400	Weak transcription	Fetal Kidney	kidney
11	chr4:78988000-78992800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:78988000-78994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:78988600-78992800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:78988800-78992400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:78988800-78992800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr4:78988800-79002600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:78988800-79003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:78989200-78992400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:78989400-78992800	Strong transcription	HepG2	liver
20	chr4:78989800-78992000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:78990200-78992800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:78990400-78991400	Enhancers	Fetal Intestine Large	intestine
23	chr4:78990600-78991400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:78990600-78991400	Enhancers	Left Ventricle	heart
25	chr4:78990600-78991400	Enhancers	Psoas Muscle	Psoas
26	chr4:78990800-78991400	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:78990800-78991600	Weak transcription	HMEC	breast
28	chr4:78990800-78996000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:78991000-78991400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:78991000-78992200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:78991000-78992200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:78991000-78992200	Enhancers	NHEK	skin
33	chr4:78991200-78991400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:78991200-78991400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:78991200-78991400	Enhancers	Right Atrium	heart
36	chr4:78991400-78992200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:78991400-78992200	Enhancers	Fetal Muscle Leg	muscle
38	chr4:78991400-78992200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:78991400-78995600	Weak transcription	Fetal Intestine Large	intestine
40	chr4:78991400-78996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:78991400-79000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:78991400-79000800	Weak transcription	Psoas Muscle	Psoas
43	chr4:78991600-78992200	Enhancers	HMEC	breast
44	chr4:78992000-78992800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:78992200-78993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:78992200-78993800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:78992200-79006800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:78992400-78992800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:78992400-78994400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:78992800-78993000	Genic enhancers	H1 Cell Line	embryonic stem cell

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