Variant report

Variant	nsv830799
Chromosome Location	chr6:128033100-128194511
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:128040470..128041978-chr6:128042517..128044595,2	MCF-7	breast:
2	chr6:128183469..128185798-chr6:128259779..128262240,2	K562	blood:
3	chr6:128066047..128067934-chr6:128068998..128071308,2	MCF-7	breast:
4	chr6:128039677..128041360-chr6:128042682..128045545,2	MCF-7	breast:
5	chr6:128059940..128061656-chr6:128063186..128065829,2	K562	blood:
6	chr6:128163382..128164089-chr8:63934415..63935240,2	MCF-7	breast:
7	chr6:128039677..128041360-chr6:128042682..128045545,2	MCF-7	breast:
8	chr6:128032188..128034407-chr6:128037171..128039950,2	MCF-7	breast:
9	chr6:128040470..128041978-chr6:128042517..128044595,2	MCF-7	breast:
10	chr6:128059940..128061656-chr6:128063186..128065829,2	K562	blood:
11	chr6:128066047..128067934-chr6:128068998..128071308,2	MCF-7	breast:
12	chr6:127875859..127876435-chr6:128057880..128058515,2	MCF-7	breast:
13	chr6:128057292..128059744-chr6:128288447..128291098,2	MCF-7	breast:
14	chr6:128176522..128177363-chr6:128875427..128876053,2	MCF-7	breast:
15	chr6:128032188..128034407-chr6:128037171..128039950,2	MCF-7	breast:
16	chr6:128057816..128058584-chr6:128289323..128290031,2	MCF-7	breast:

No data

Extended variants
information (count: 5845 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:5845 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546505186	chr6:128033103-128033104	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564503022	chr6:128033128-128033129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531761568	chr6:128033213-128033214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536691614	chr6:128033225-128033226	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371968851	chr6:128033298-128033299	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374594946	chr6:128033381-128033382	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57318847	chr6:128033385-128033386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550167243	chr6:128033386-128033387	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568551999	chr6:128033417-128033418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529363241	chr6:128033435-128033436	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368739183	chr6:128033449-128033450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546485973	chr6:128033458-128033459	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554961939	chr6:128033463-128033464	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183113265	chr6:128033500-128033501	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17054939	chr6:128033506-128033507	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533861090	chr6:128033554-128033555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371720846	chr6:128033558-128033559	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570377695	chr6:128033560-128033561	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7454627	chr6:128033628-128033629	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555839113	chr6:128033639-128033640	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558741986	chr6:128033668-128033669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs579512	chr6:128033816-128033817	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541550778	chr6:128033828-128033829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566442563	chr6:128033857-128033858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371961150	chr6:128033867-128033868	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554380713	chr6:128033869-128033870	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148350511	chr6:128033890-128033891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541601525	chr6:128033893-128033894	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552683754	chr6:128033902-128033903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs580388	chr6:128033905-128033906	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564789148	chr6:128033925-128033926	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373981158	chr6:128033934-128033935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188345119	chr6:128033954-128033955	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543843012	chr6:128033962-128033963	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527833102	chr6:128033972-128033973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529421888	chr6:128034022-128034023	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141482861	chr6:128034023-128034024	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546465106	chr6:128034039-128034040	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559769239	chr6:128034055-128034056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527496767	chr6:128034074-128034075	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112646680	chr6:128034188-128034189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150424406	chr6:128034206-128034207	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537745426	chr6:128034217-128034218	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549789289	chr6:128034223-128034224	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138155278	chr6:128034239-128034240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143802426	chr6:128034282-128034283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372254509	chr6:128034418-128034419	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191441758	chr6:128034476-128034477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs683202	chr6:128034578-128034579	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75940196	chr6:128034587-128034588	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1243 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128024400-128041200	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr6:128024600-128051400	Strong transcription	Fetal Thymus	thymus
3	chr6:128024800-128041000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:128024800-128042400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:128025200-128047400	Strong transcription	Primary T cells from cord blood	blood
6	chr6:128026400-128049200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:128026600-128036600	Weak transcription	Dnd41	blood
8	chr6:128028200-128035600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:128029000-128033800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:128030000-128034400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:128030800-128033200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:128031000-128039800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:128032000-128033400	Weak transcription	Thymus	Thymus
14	chr6:128032400-128034000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:128032400-128034200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:128032800-128034600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:128033200-128035000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:128033400-128038800	Strong transcription	Thymus	Thymus
19	chr6:128033800-128035400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:128034000-128034800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:128034200-128034400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:128034400-128035400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:128034400-128036200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:128034600-128041200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:128034800-128035000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:128035000-128035200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:128035000-128040000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:128035200-128037000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:128035400-128037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:128035400-128039800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:128035600-128036400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:128036200-128037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:128036400-128040400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:128037000-128038000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:128037400-128038000	Enhancers	Psoas Muscle	Psoas
36	chr6:128037400-128038000	Enhancers	HSMMtube	muscle
37	chr6:128037400-128038200	Enhancers	Ovary	ovary
38	chr6:128037400-128038400	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:128037400-128041000	Enhancers	Fetal Heart	heart
40	chr6:128037400-128041200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:128037600-128038200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:128037600-128038200	Enhancers	NHEK	skin
43	chr6:128037600-128038600	Enhancers	Stomach Smooth Muscle	stomach
44	chr6:128037600-128038800	Enhancers	Colon Smooth Muscle	Colon
45	chr6:128037800-128039000	Enhancers	Fetal Lung	lung
46	chr6:128038000-128038400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr6:128038000-128040000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:128038200-128039400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:128038200-128043200	Weak transcription	Ovary	ovary
50	chr6:128038400-128039400	Weak transcription	Rectal Smooth Muscle	rectum

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