Variant report

Variant	nsv886739
Chromosome Location	chr6:144719765-144796516
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:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144730522..144732080-chr6:144737085..144739296,2	K562	blood:
2	chr6:144770368..144773131-chr6:144775586..144778124,2	K562	blood:
3	chr6:144606316..144608416-chr6:144777864..144780190,2	MCF-7	breast:
4	chr6:144746502..144749178-chr6:144749821..144752410,2	MCF-7	breast:
5	chr6:144740022..144742732-chr6:144755745..144758019,2	K562	blood:
6	chr6:144770368..144773131-chr6:144775586..144778124,2	K562	blood:
7	chr6:144784872..144786671-chr6:144789063..144790864,2	K562	blood:
8	chr6:144784872..144786671-chr6:144789063..144790864,2	K562	blood:
9	chr6:144730522..144732080-chr6:144737085..144739296,2	K562	blood:
10	chr6:144716339..144719263-chr6:144732088..144734687,2	K562	blood:
11	chr6:144722706..144724296-chr6:144737835..144739711,2	K562	blood:
12	chr6:144720233..144722672-chr6:144725515..144727818,2	K562	blood:
13	chr6:144787813..144789808-chr6:144792898..144795069,2	K562	blood:
14	chr6:144793191..144795370-chr6:144795376..144798079,2	MCF-7	breast:
15	chr6:144787813..144789808-chr6:144792898..144795069,2	K562	blood:
16	chr6:144740022..144742732-chr6:144755745..144758019,2	K562	blood:
17	chr6:144722706..144724296-chr6:144737835..144739711,2	K562	blood:
18	chr6:144795886..144798069-chr6:144800521..144802529,2	K562	blood:
19	chr6:144735323..144737849-chr6:144741560..144744024,3	MCF-7	breast:
20	chr6:144778116..144781103-chr6:144785812..144788020,2	MCF-7	breast:
21	chr6:144541086..144544074-chr6:144777105..144778717,2	K562	blood:
22	chr6:144793300..144795931-chr6:144801690..144803447,2	MCF-7	breast:
23	chr6:144761784..144763627-chr6:144765139..144766883,2	MCF-7	breast:
24	chr6:144778116..144781103-chr6:144785812..144788020,2	MCF-7	breast:
25	chr6:144778831..144780894-chr6:144783346..144785550,2	K562	blood:
26	chr6:144778831..144780894-chr6:144783346..144785550,2	K562	blood:
27	chr6:144735323..144737849-chr6:144741560..144744024,3	MCF-7	breast:
28	chr6:144746502..144749178-chr6:144749821..144752410,2	MCF-7	breast:
29	chr5:91315876..91316579-chr6:144774937..144775884,2	MCF-7	breast:
30	chr6:144793191..144795370-chr6:144795376..144798079,2	MCF-7	breast:
31	chr6:144720233..144722672-chr6:144725515..144727818,2	K562	blood:
32	chr6:144761784..144763627-chr6:144765139..144766883,2	MCF-7	breast:
33	chr6:144682093..144683894-chr6:144723958..144726060,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX11-5	chr6:144719095-144719888	NONHSAT115382

No data

Variant related genes	Relation type
ENSG00000152818	chromatin interactions
ENSG00000219409	chromatin interactions

Extended variants
information (count: 2943 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2943 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386706623	chr6:144719765-144719766	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs9496952	chr6:144719767-144719768	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375930847	chr6:144719774-144719775	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs566709414	chr6:144719828-144719829	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs527588444	chr6:144719917-144719918	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548537859	chr6:144719929-144719930	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566947686	chr6:144719971-144719972	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537527676	chr6:144719975-144719976	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7755700	chr6:144719986-144719987	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569342594	chr6:144719993-144719994	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113239422	chr6:144719996-144719997	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78668630	chr6:144720007-144720008	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78883205	chr6:144720008-144720009	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540072520	chr6:144720056-144720057	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558073280	chr6:144720059-144720060	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573448574	chr6:144720060-144720061	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534518257	chr6:144720078-144720079	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555777124	chr6:144720114-144720115	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144684956	chr6:144720214-144720215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538289548	chr6:144720258-144720259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544706043	chr6:144720299-144720300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558274512	chr6:144720454-144720455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139860727	chr6:144720487-144720488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545146042	chr6:144720489-144720490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9496953	chr6:144720624-144720625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs578163972	chr6:144720648-144720649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145495625	chr6:144720651-144720652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73597053	chr6:144720663-144720664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531247231	chr6:144720675-144720676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549608460	chr6:144720683-144720684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540392962	chr6:144720746-144720747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9484873	chr6:144720829-144720830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116675700	chr6:144720838-144720839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34399070	chr6:144720870-144720871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551922262	chr6:144720872-144720873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375393879	chr6:144720875-144720876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572960780	chr6:144720898-144720899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370368444	chr6:144720902-144720903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190860535	chr6:144720903-144720904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574077140	chr6:144720913-144720914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561692237	chr6:144720997-144720998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79049559	chr6:144721025-144721026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530413790	chr6:144721033-144721034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9496954	chr6:144721041-144721042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371565853	chr6:144721115-144721116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147266018	chr6:144721117-144721118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545194712	chr6:144721140-144721141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75399330	chr6:144721154-144721155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571947294	chr6:144721169-144721170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183157590	chr6:144721183-144721184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2435 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144697200-144732600	Weak transcription	Gastric	stomach
2	chr6:144702800-144720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:144705800-144722600	Weak transcription	Psoas Muscle	Psoas
4	chr6:144711800-144728000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:144712000-144726400	Weak transcription	HSMMtube	muscle
6	chr6:144712400-144720800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:144712400-144722800	Weak transcription	Right Ventricle	heart
8	chr6:144712600-144732600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:144714400-144720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:144715200-144720600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:144715200-144722800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:144716800-144721600	Weak transcription	NHLF	lung
13	chr6:144716800-144726400	Weak transcription	HUVEC	blood vessel
14	chr6:144716800-144729200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:144717000-144726800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:144717400-144720000	ZNF genes & repeats	GM12878-XiMat	blood
17	chr6:144717400-144729400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:144717800-144719800	ZNF genes & repeats	HepG2	liver
19	chr6:144718200-144720000	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr6:144718400-144719800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr6:144718400-144720000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:144718400-144720200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:144718600-144719800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:144718600-144720000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr6:144718600-144720000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr6:144718600-144720200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:144718800-144719800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:144718800-144719800	ZNF genes & repeats	Dnd41	blood
29	chr6:144718800-144720000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr6:144719000-144719800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:144719000-144719800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:144719000-144719800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr6:144719000-144719800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr6:144719200-144719800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr6:144719200-144736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:144719400-144721000	Weak transcription	Fetal Kidney	kidney
37	chr6:144719400-144722800	Weak transcription	Ovary	ovary
38	chr6:144719400-144722800	Weak transcription	Pancreas	Pancrea
39	chr6:144719400-144724400	Weak transcription	Aorta	Aorta
40	chr6:144719400-144726200	Weak transcription	Fetal Lung	lung
41	chr6:144719400-144727600	Weak transcription	Esophagus	oesophagus
42	chr6:144719400-144728200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:144719400-144730600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:144719400-144732400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:144719400-144737000	Weak transcription	Spleen	Spleen
46	chr6:144719600-144719800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:144719600-144719800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:144719600-144719800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:144719600-144720000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:144719600-144720200	Enhancers	Fetal Stomach	stomach

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