Variant report

Variant	nsv886773
Chromosome Location	chr6:150751951-150799803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150772857..150774646-chr6:150776022..150779797,3	K562	blood:
2	chr6:150783745..150786487-chr6:150807804..150809772,2	K562	blood:
3	chr6:150753172..150755585-chr6:150755999..150757567,2	K562	blood:
4	chr6:150778759..150781417-chr6:150782165..150783683,2	K562	blood:
5	chr6:150765548..150768307-chr6:150984281..150986036,2	MCF-7	breast:
6	chr6:150745493..150747082-chr6:150771291..150772922,2	K562	blood:
7	chr6:150744561..150747232-chr6:150752463..150755073,2	K562	blood:
8	chr6:150772857..150774646-chr6:150776022..150779797,3	K562	blood:
9	chr16:85348513..85351058-chr6:150779289..150781438,2	MCF-7	breast:
10	chr6:150763305..150765361-chr6:150768135..150769999,2	K562	blood:
11	chr6:150778759..150781417-chr6:150782165..150783683,2	K562	blood:
12	chr6:150763305..150765361-chr6:150768135..150769999,2	K562	blood:
13	chr6:150753172..150755585-chr6:150755999..150757567,2	K562	blood:

No data

Extended variants
information (count: 1155 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs643956	chr6:150751951-150751952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144780980	chr6:150751960-150751961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567602636	chr6:150751991-150751992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13212366	chr6:150752053-150752054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9384516	chr6:150752060-150752061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529516362	chr6:150752067-150752068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187363775	chr6:150752075-150752076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568875928	chr6:150752081-150752082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73782629	chr6:150752151-150752152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs193296689	chr6:150752175-150752176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1768287	chr6:150752217-150752218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536655930	chr6:150752231-150752232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553653275	chr6:150752255-150752256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373121948	chr6:150752261-150752262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150878644	chr6:150752265-150752266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76478541	chr6:150752267-150752268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556292692	chr6:150752274-150752275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560791485	chr6:150752328-150752329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372890186	chr6:150752329-150752330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34211517	chr6:150752334-150752335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183776964	chr6:150752367-150752368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71544397	chr6:150752372-150752373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2880928	chr6:150752373-150752374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145424918	chr6:150752399-150752400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187944828	chr6:150752400-150752401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2344708	chr6:150752402-150752403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529557531	chr6:150752453-150752454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192186007	chr6:150752466-150752467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143999874	chr6:150752499-150752500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531625795	chr6:150752511-150752512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184202935	chr6:150752533-150752534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76095793	chr6:150752559-150752560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533551783	chr6:150752564-150752565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553317219	chr6:150752588-150752589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79173151	chr6:150752600-150752601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536575771	chr6:150752601-150752602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34876935	chr6:150752613-150752614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6925862	chr6:150752616-150752617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576224086	chr6:150752658-150752659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538454539	chr6:150752696-150752697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146444310	chr6:150752735-150752736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78793606	chr6:150752745-150752746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs618002	chr6:150752752-150752753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560483627	chr6:150752779-150752780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547969806	chr6:150752783-150752784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116610631	chr6:150752786-150752787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9384518	chr6:150752795-150752796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9384519	chr6:150752862-150752863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140917444	chr6:150752870-150752871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144730692	chr6:150752881-150752882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150740600-150757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:150747000-150757400	Weak transcription	Gastric	stomach
3	chr6:150747800-150757600	Weak transcription	Right Atrium	heart
4	chr6:150750800-150752600	Weak transcription	Fetal Lung	lung
5	chr6:150751000-150752000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:150751400-150753200	Enhancers	Fetal Muscle Trunk	muscle
7	chr6:150751800-150752200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:150751800-150752200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:150752000-150752200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:150752000-150753000	Enhancers	Fetal Muscle Leg	muscle
11	chr6:150752600-150753000	Enhancers	Fetal Lung	lung
12	chr6:150753000-150757400	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:150753200-150757200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:150757200-150757400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:150757200-150757400	Enhancers	Fetal Muscle Trunk	muscle
16	chr6:150757400-150757600	Enhancers	Gastric	stomach
17	chr6:150757400-150757800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr6:150757400-150757800	Enhancers	Fetal Muscle Leg	muscle
19	chr6:150757400-150758000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr6:150757600-150757800	Enhancers	Right Atrium	heart
21	chr6:150757600-150758200	Weak transcription	Gastric	stomach
22	chr6:150769400-150770000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:150769600-150770000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:150769600-150770000	Enhancers	HMEC	breast
25	chr6:150769800-150770000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:150770800-150771400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:150770800-150773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:150771400-150772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:150772400-150774600	Enhancers	Fetal Heart	heart
30	chr6:150772800-150774600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:150772800-150774800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:150772800-150774800	Enhancers	Fetal Muscle Leg	muscle
33	chr6:150772800-150775800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:150773000-150774000	Enhancers	Right Atrium	heart
35	chr6:150773000-150774200	Enhancers	Lung	lung
36	chr6:150773000-150774800	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:150773200-150773800	Enhancers	Fetal Stomach	stomach
38	chr6:150773200-150773800	Enhancers	Left Ventricle	heart
39	chr6:150773200-150775000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:150773200-150775000	Enhancers	Fetal Kidney	kidney
41	chr6:150773200-150775400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:150773400-150773600	Enhancers	Colon Smooth Muscle	Colon
43	chr6:150773400-150774400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:150773400-150774600	Enhancers	HUVEC	blood vessel
45	chr6:150773600-150773800	Enhancers	Liver	Liver
46	chr6:150773600-150774200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:150773600-150774200	Enhancers	Placenta	Placenta
48	chr6:150773600-150774400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:150773600-150774400	Enhancers	Fetal Intestine Large	intestine
50	chr6:150773600-150774400	Enhancers	Fetal Lung	lung

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