Variant report

Variant	nsv886456
Chromosome Location	chr6:101049108-101277926
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:109)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:101081950..101083969-chr6:101086738..101088997,2	MCF-7	breast:
2	chr6:101191819..101193985-chr6:101196760..101198268,2	K562	blood:
3	chr6:101073440..101076010-chr6:101092946..101094506,2	K562	blood:
4	chr6:101243854..101246024-chr6:101258576..101260117,2	K562	blood:
5	chr6:101221571..101223322-chr6:101224245..101227065,4	K562	blood:
6	chr6:101243854..101246024-chr6:101258576..101260117,2	K562	blood:
7	chr6:101151240..101154082-chr6:101158096..101159766,2	K562	blood:
8	chr6:101174106..101177005-chr6:101178614..101180763,2	K562	blood:
9	chr6:100559670..100561904-chr6:101108976..101110745,2	MCF-7	breast:
10	chr6:101235770..101239248-chr6:101239414..101244156,4	K562	blood:
11	chr6:100554526..100556212-chr6:101104828..101106229,8	MCF-7	breast:
12	chr6:101191819..101193985-chr6:101196760..101198268,2	K562	blood:
13	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
14	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
15	chr6:101184266..101186701-chr6:101321079..101322607,2	K562	blood:
16	chr6:101140450..101143009-chr6:101144554..101147348,2	MCF-7	breast:
17	chr6:101144625..101146533-chr6:101150207..101152551,2	K562	blood:
18	chr6:101167975..101170318-chr6:101170858..101173669,2	MCF-7	breast:
19	chr6:100564279..100564893-chr6:101111911..101112519,2	MCF-7	breast:
20	chr6:101167975..101170318-chr6:101170858..101173669,2	MCF-7	breast:
21	chr6:101246621..101249156-chr6:101327376..101329870,2	K562	blood:
22	chr6:101137250..101140625-chr6:101142166..101144758,3	K562	blood:
23	chr6:101221571..101223322-chr6:101224245..101227065,4	K562	blood:
24	chr20:56283793..56286446-chr6:101062328..101064886,2	MCF-7	breast:
25	chr6:101253793..101256720-chr6:101258075..101261197,3	MCF-7	breast:
26	chr6:101134397..101137375-chr6:101141087..101145140,3	K562	blood:
27	chr6:101144625..101146533-chr6:101150207..101152551,2	K562	blood:
28	chr6:100774579..100775648-chr6:101105264..101106241,7	MCF-7	breast:
29	chr6:101166704..101169523-chr6:101191232..101192828,2	K562	blood:
30	chr6:101269410..101270925-chr6:101275181..101277439,2	MCF-7	breast:
31	chr6:101163027..101165840-chr6:101165855..101168378,2	K562	blood:
32	chr6:101134397..101136126-chr6:101142181..101145050,2	K562	blood:
33	chr6:101227439..101228979-chr6:101229862..101232635,2	MCF-7	breast:
34	chr6:101162432..101165009-chr6:101330194..101333113,2	K562	blood:
35	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
36	chr6:101232498..101235152-chr6:101238676..101241489,3	K562	blood:
37	chr6:101123862..101126267-chr6:101132298..101133807,2	K562	blood:
38	chr6:101151355..101153775-chr6:101154853..101157255,2	K562	blood:
39	chr6:101239952..101241770-chr6:101249281..101252213,2	K562	blood:
40	chr6:101139725..101141428-chr6:101141736..101143273,2	K562	blood:
41	chr6:101137250..101140625-chr6:101142166..101144758,3	K562	blood:
42	chr6:101090896..101093112-chr6:101096818..101099684,2	K562	blood:
43	chr6:101162028..101164995-chr6:101165855..101170689,5	K562	blood:
44	chr6:101165938..101169618-chr6:101169739..101172714,3	K562	blood:
45	chr6:101165938..101169618-chr6:101169739..101172714,3	K562	blood:
46	chr6:101253793..101256720-chr6:101258075..101261197,3	MCF-7	breast:
47	chr6:101177164..101179781-chr6:101180643..101183395,2	K562	blood:
48	chr6:101141922..101144028-chr6:101167838..101169583,2	MCF-7	breast:
49	chr6:101134397..101136126-chr6:101142181..101145050,2	K562	blood:
50	chr6:101153025..101154840-chr6:101159613..101162231,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIK2-6	chr6:101080704-101080933	uc_202_+
2	lnc-SIM1-3	chr6:101080704-101080933	uc_202_-

No data

Variant related genes	Relation type
ENSG00000124225	chromatin interactions
ENSG00000112249	chromatin interactions
ENSG00000260000	chromatin interactions

Extended variants
information (count: 8153 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:8153 , 50 per page) page: 1 2 3 4 5 6 7 ... 164

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6927531	chr6:101049108-101049109	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571679003	chr6:101049136-101049137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538662289	chr6:101049151-101049152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147952258	chr6:101049163-101049164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114282684	chr6:101049192-101049193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536938717	chr6:101049199-101049200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555175864	chr6:101049317-101049318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573478451	chr6:101049361-101049362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192728288	chr6:101049402-101049403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373078075	chr6:101049436-101049437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552804634	chr6:101049461-101049462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75213401	chr6:101049523-101049524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544725581	chr6:101049633-101049634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563288187	chr6:101049645-101049646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141774099	chr6:101049646-101049647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576043971	chr6:101049647-101049648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184306189	chr6:101049672-101049673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201261547	chr6:101049682-101049683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138910225	chr6:101049705-101049706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61746540	chr6:101049748-101049749	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372582476	chr6:101049757-101049758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62422678	chr6:101049759-101049760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547127776	chr6:101049874-101049875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565235006	chr6:101049881-101049882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532635993	chr6:101049884-101049885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550738504	chr6:101049937-101049938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534328442	chr6:101050023-101050024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568894591	chr6:101050027-101050028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536976051	chr6:101050038-101050039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187660603	chr6:101050067-101050068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191527965	chr6:101050073-101050074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368890118	chr6:101050080-101050081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376535490	chr6:101050084-101050085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184840130	chr6:101050089-101050090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553130642	chr6:101050095-101050096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369349517	chr6:101050104-101050105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189617140	chr6:101050141-101050142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538714513	chr6:101050183-101050184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117426409	chr6:101050215-101050216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570910077	chr6:101050224-101050225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532240673	chr6:101050257-101050258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181452115	chr6:101050281-101050282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538250529	chr6:101050287-101050288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146986260	chr6:101050338-101050339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561575243	chr6:101050379-101050380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114233768	chr6:101050415-101050416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540514807	chr6:101050451-101050452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565466411	chr6:101050457-101050458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532532476	chr6:101050480-101050481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141899504	chr6:101050488-101050489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Autism	22543975	CNVD

Chromatin state (count:3059 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101009000-101065600	Weak transcription	NHEK	skin
2	chr6:101011000-101080800	Weak transcription	HepG2	liver
3	chr6:101015800-101049200	Weak transcription	Esophagus	oesophagus
4	chr6:101016400-101065800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:101017200-101069400	Weak transcription	Fetal Lung	lung
6	chr6:101017800-101069800	Weak transcription	Lung	lung
7	chr6:101018400-101051200	Weak transcription	Right Ventricle	heart
8	chr6:101020400-101066200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:101025800-101099800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:101027800-101049600	Weak transcription	Fetal Kidney	kidney
11	chr6:101027800-101070000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:101028000-101068800	Weak transcription	Psoas Muscle	Psoas
13	chr6:101030200-101070000	Weak transcription	Aorta	Aorta
14	chr6:101032400-101102000	Weak transcription	Thymus	Thymus
15	chr6:101032400-101104400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:101032600-101102000	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:101032600-101110400	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:101032800-101065600	Weak transcription	Colonic Mucosa	Colon
19	chr6:101033600-101057600	Weak transcription	Brain Angular Gyrus	brain
20	chr6:101033800-101065400	Weak transcription	Hela-S3	cervix
21	chr6:101034000-101085000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:101034400-101066200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:101034400-101084200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:101034400-101092400	Weak transcription	Pancreas	Pancrea
25	chr6:101034600-101055000	Weak transcription	Fetal Intestine Small	intestine
26	chr6:101035400-101065600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:101035800-101070000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:101036000-101064600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:101036000-101075200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:101036000-101084800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:101036200-101053400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:101036200-101073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:101036200-101084000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:101037400-101110600	Weak transcription	K562	blood
35	chr6:101037600-101052400	Weak transcription	Fetal Intestine Large	intestine
36	chr6:101037600-101054000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:101037600-101056400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:101037600-101057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:101037600-101071200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:101037600-101072200	Weak transcription	Adipose Nuclei	Adipose
41	chr6:101037800-101107200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:101038000-101073200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:101038000-101084200	Weak transcription	Fetal Thymus	thymus
44	chr6:101038600-101065400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:101039200-101071200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:101041200-101053400	Weak transcription	Osteobl	bone
47	chr6:101041800-101065600	Weak transcription	HSMMtube	muscle
48	chr6:101042000-101055200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:101042200-101055000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:101042400-101055200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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