Variant report

Variant	nsv1022283
Chromosome Location	chr6:147663541-147700720
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147685644..147688085-chr6:147690225..147693015,3	K562	blood:
2	chr6:147685432..147688337-chr6:147695787..147697611,2	K562	blood:
3	chr6:147674142..147676430-chr6:147682128..147684419,2	K562	blood:
4	chr6:147685432..147688337-chr6:147695787..147697611,2	K562	blood:
5	chr6:147691862..147694134-chr6:147695715..147698505,2	K562	blood:
6	chr6:147656651..147659258-chr6:147668248..147670413,2	K562	blood:
7	chr6:147689027..147691902-chr6:147709302..147712120,2	K562	blood:
8	chr6:147664249..147666005-chr6:147673962..147676762,2	K562	blood:
9	chr6:147691862..147694134-chr6:147695715..147698505,2	K562	blood:
10	chr6:147689765..147692584-chr6:147692811..147694945,3	K562	blood:
11	chr6:147664249..147666005-chr6:147673962..147676762,2	K562	blood:
12	chr6:147690188..147692796-chr6:147704081..147706540,2	K562	blood:
13	chr6:147674142..147676430-chr6:147682128..147684419,2	K562	blood:
14	chr6:147685644..147688085-chr6:147690225..147693015,3	K562	blood:
15	chr6:147689765..147692584-chr6:147692811..147694945,3	K562	blood:
16	chr6:147603613..147606358-chr6:147670525..147673088,2	K562	blood:
17	chr6:147632716..147635508-chr6:147662008..147664678,2	K562	blood:
18	chr6:147690188..147692861-chr6:147705040..147707677,2	K562	blood:
19	chr6:147590566..147593187-chr6:147668783..147670491,2	K562	blood:
20	chr6:147223830..147226657-chr6:147694168..147696836,2	K562	blood:
21	chr6:147660277..147661948-chr6:147667119..147669406,3	K562	blood:
22	chr6:147648442..147651274-chr6:147664737..147666741,2	MCF-7	breast:
23	chr6:147674544..147676430-chr6:147682128..147684379,2	K562	blood:
24	chr6:147674544..147676430-chr6:147682128..147684379,2	K562	blood:

No data

Extended variants
information (count: 1281 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370644878	chr6:147663585-147663586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550003189	chr6:147663605-147663606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530394552	chr6:147663671-147663672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117824912	chr6:147663694-147663695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147945603	chr6:147663712-147663713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532724904	chr6:147663721-147663722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551503655	chr6:147663798-147663799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538966794	chr6:147663853-147663854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61078293	chr6:147664002-147664003	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527337745	chr6:147664087-147664088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141859430	chr6:147664120-147664121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567477225	chr6:147664167-147664168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73787121	chr6:147664195-147664196	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549776540	chr6:147664202-147664203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56221597	chr6:147664302-147664303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55929249	chr6:147664303-147664304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569538963	chr6:147664354-147664355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538402274	chr6:147664355-147664356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79355805	chr6:147664404-147664405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193240016	chr6:147664425-147664426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558473193	chr6:147664484-147664485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531717515	chr6:147664491-147664492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185336296	chr6:147664531-147664532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554931501	chr6:147664589-147664590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574707738	chr6:147664670-147664671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544116507	chr6:147664706-147664707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563923378	chr6:147664707-147664708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201272282	chr6:147664717-147664718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190238884	chr6:147664791-147664792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368538980	chr6:147664875-147664876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546411265	chr6:147664877-147664878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145359687	chr6:147664882-147664883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55693498	chr6:147664895-147664896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377221815	chr6:147664910-147664911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527358698	chr6:147664953-147664954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370498462	chr6:147665024-147665025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181381068	chr6:147665056-147665057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560957320	chr6:147665071-147665072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529632174	chr6:147665202-147665203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549669367	chr6:147665257-147665258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569575880	chr6:147665300-147665301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143315393	chr6:147665319-147665320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551929163	chr6:147665321-147665322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566073264	chr6:147665334-147665335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148297141	chr6:147665384-147665385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80105476	chr6:147665410-147665411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147617532	chr6:147665420-147665421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574779752	chr6:147665466-147665467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185512461	chr6:147665472-147665473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140426306	chr6:147665573-147665574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	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
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
6	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
7	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
8	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
9	chr6:147625800-147667400	Weak transcription	Gastric	stomach
10	chr6:147626000-147687000	Weak transcription	Lung	lung
11	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
18	chr6:147628000-147668000	Weak transcription	Aorta	Aorta
19	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
21	chr6:147633800-147684400	Weak transcription	Ovary	ovary
22	chr6:147637000-147686800	Weak transcription	A549	lung
23	chr6:147640000-147664400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:147642800-147705000	Weak transcription	HepG2	liver
25	chr6:147643600-147667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:147643800-147680200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:147643800-147680200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:147643800-147680200	Weak transcription	Thymus	Thymus
29	chr6:147643800-147686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:147644000-147669200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
32	chr6:147644400-147679200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:147644400-147686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:147644600-147684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:147644800-147663600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:147644800-147683600	Weak transcription	Fetal Brain Female	brain
37	chr6:147645200-147682000	Weak transcription	HMEC	breast
38	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:147645800-147685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:147649000-147687200	Weak transcription	Right Ventricle	heart
41	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
42	chr6:147649600-147679800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:147649600-147680200	Weak transcription	Fetal Intestine Small	intestine
44	chr6:147649600-147680200	Weak transcription	NHLF	lung
45	chr6:147649600-147684000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:147649600-147685200	Weak transcription	Fetal Lung	lung
47	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
48	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney
49	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
50	chr6:147649800-147666800	Weak transcription	Primary B cells from peripheral blood	blood

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