Variant report

Variant	nsv291712
Chromosome Location	chr4:86671670-86676799
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	chr4:86666068..86669056-chr4:86671482..86673807,2	K562	blood:
2	chr4:86669258..86671290-chr4:86671366..86674206,2	MCF-7	breast:

Extended variants
information (count: 191 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553185527	chr4:86671683-86671684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574582147	chr4:86671712-86671713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535527142	chr4:86671742-86671743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113918531	chr4:86671754-86671755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111772965	chr4:86671788-86671789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114474370	chr4:86671796-86671797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575132319	chr4:86671806-86671807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572716042	chr4:86671894-86671895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13121597	chr4:86671918-86671919	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573222745	chr4:86671933-86671934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547153022	chr4:86671954-86671955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146679091	chr4:86671957-86671958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562291218	chr4:86671974-86671975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529502807	chr4:86671975-86671976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551048567	chr4:86672008-86672009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76461093	chr4:86672021-86672022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533321943	chr4:86672023-86672024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28528923	chr4:86672039-86672040	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13121496	chr4:86672070-86672071	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115782469	chr4:86672080-86672081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546620319	chr4:86672086-86672087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17010755	chr4:86672094-86672095	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535294466	chr4:86672116-86672117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540732098	chr4:86672187-86672188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549606572	chr4:86672191-86672192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140228396	chr4:86672196-86672197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367966771	chr4:86672203-86672204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191446081	chr4:86672228-86672229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369846378	chr4:86672237-86672238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183580384	chr4:86672248-86672249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72656282	chr4:86672295-86672296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539017667	chr4:86672347-86672348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57065351	chr4:86672383-86672384	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374950441	chr4:86672401-86672402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555346511	chr4:86672444-86672445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150331931	chr4:86672521-86672522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540515673	chr4:86672524-86672525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555831422	chr4:86672570-86672571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532856996	chr4:86672587-86672588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137970222	chr4:86672609-86672610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34322771	chr4:86672625-86672626	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149051252	chr4:86672654-86672655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17010756	chr4:86672685-86672686	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189441435	chr4:86672748-86672749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531935005	chr4:86672756-86672757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143137545	chr4:86672772-86672773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560488755	chr4:86672776-86672777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546426472	chr4:86672778-86672779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182216576	chr4:86672819-86672820	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201038980	chr4:86672820-86672821	Enhancers Weak transcription Strong transcription	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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86673200	Weak transcription	Left Ventricle	heart
2	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:86664000-86675600	Weak transcription	Brain Anterior Caudate	brain
4	chr4:86664400-86673000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:86665000-86672800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:86665000-86674600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:86665600-86675600	Weak transcription	Adipose Nuclei	Adipose
8	chr4:86665800-86673200	Weak transcription	Right Ventricle	heart
9	chr4:86666000-86682400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:86667600-86678000	Weak transcription	Stomach Mucosa	stomach
11	chr4:86667800-86676400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:86667800-86676400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:86668000-86677800	Weak transcription	Right Atrium	heart
14	chr4:86669000-86675000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:86670400-86672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:86670400-86673000	Weak transcription	NHDF-Ad	bronchial
17	chr4:86670400-86673400	Weak transcription	Fetal Heart	heart
18	chr4:86670400-86683600	Weak transcription	HSMMtube	muscle
19	chr4:86670600-86672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:86670600-86675800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:86670600-86680400	Weak transcription	HUVEC	blood vessel
22	chr4:86670800-86671800	Weak transcription	Primary B cells from cord blood	blood
23	chr4:86671200-86672600	Weak transcription	HSMM	muscle
24	chr4:86671400-86673200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:86671600-86673000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:86671600-86681800	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:86671800-86673000	Strong transcription	Primary B cells from cord blood	blood
28	chr4:86672600-86673200	Strong transcription	HSMM	muscle
29	chr4:86672800-86673000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:86672800-86673200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:86672800-86673600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:86673000-86673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:86673000-86673400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:86673000-86673400	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr4:86673000-86673400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:86673000-86673400	Enhancers	NHDF-Ad	bronchial
37	chr4:86673000-86673600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:86673000-86674200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:86673000-86679800	Weak transcription	Primary B cells from cord blood	blood
40	chr4:86673200-86673400	Genic enhancers	Left Ventricle	heart
41	chr4:86673200-86673400	Enhancers	Spleen	Spleen
42	chr4:86673200-86673400	Genic enhancers	HSMM	muscle
43	chr4:86673200-86673600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:86673200-86673600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:86673200-86673600	Enhancers	Right Ventricle	heart
46	chr4:86673400-86673600	Enhancers	Left Ventricle	heart
47	chr4:86673400-86674000	Enhancers	Primary B cells from peripheral blood	blood
48	chr4:86673400-86674200	Enhancers	Fetal Heart	heart
49	chr4:86673400-86674800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:86673400-86680600	Weak transcription	NHDF-Ad	bronchial

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