Variant report

Variant	nsv886822
Chromosome Location	chr6:161891388-161958898
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161948248..161953523-chr6:161953771..161956538,5	K562	blood:
2	chr6:161954204..161956477-chr6:161958726..161961716,2	K562	blood:
3	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
4	chr6:161948248..161953523-chr6:161953771..161956538,5	K562	blood:
5	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
6	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
7	chr6:161944005..161945740-chr6:161956110..161958693,2	MCF-7	breast:
8	chr6:161944005..161945740-chr6:161956110..161958693,2	MCF-7	breast:
9	chr6:161874908..161877099-chr6:161907040..161908685,2	K562	blood:
10	chr6:161954204..161956477-chr6:161958726..161961716,2	K562	blood:
11	chr6:161920614..161923541-chr6:161940128..161942185,2	K562	blood:
12	chr6:161909061..161911218-chr6:161914313..161915879,2	K562	blood:
13	chr6:161917184..161919756-chr6:161920329..161923023,2	K562	blood:
14	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
15	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
16	chr6:161920614..161923541-chr6:161940128..161942185,2	K562	blood:
17	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
18	chr6:161906066..161907970-chr6:161910670..161913449,2	K562	blood:
19	chr6:161917184..161919756-chr6:161920329..161923023,2	K562	blood:
20	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
21	chr6:161909061..161911218-chr6:161914313..161915879,2	K562	blood:
22	chr6:161906066..161907970-chr6:161910670..161913449,2	K562	blood:
23	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:

No data

Extended variants
information (count: 2367 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2367 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6906519	chr6:161891388-161891389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534818724	chr6:161891394-161891395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182007639	chr6:161891412-161891413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9458274	chr6:161891485-161891486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370422653	chr6:161891520-161891521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577910822	chr6:161891533-161891534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537187458	chr6:161891534-161891535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556767691	chr6:161891541-161891542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185538543	chr6:161891542-161891543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542231134	chr6:161891581-161891582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560011618	chr6:161891585-161891586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573418542	chr6:161891595-161891596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73589748	chr6:161891615-161891616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577253155	chr6:161891623-161891624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565176894	chr6:161891633-161891634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530992495	chr6:161891641-161891642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146161403	chr6:161891651-161891652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561194177	chr6:161891665-161891666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73589750	chr6:161891780-161891781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73589753	chr6:161891794-161891795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140015939	chr6:161891806-161891807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528444407	chr6:161891835-161891836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551693563	chr6:161891879-161891880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189614772	chr6:161891927-161891928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73589754	chr6:161891932-161891933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557041298	chr6:161891953-161891954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76363951	chr6:161891967-161891968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7453126	chr6:161892002-161892003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180697652	chr6:161892122-161892123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368410325	chr6:161892138-161892139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552649413	chr6:161892154-161892155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572494821	chr6:161892177-161892178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56386630	chr6:161892188-161892189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147810971	chr6:161892304-161892305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186553899	chr6:161892313-161892314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541974398	chr6:161892318-161892319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114043768	chr6:161892349-161892350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78034511	chr6:161892362-161892363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73589756	chr6:161892373-161892374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117156598	chr6:161892394-161892395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530089962	chr6:161892436-161892437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540720527	chr6:161892486-161892487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115890747	chr6:161892490-161892491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532537699	chr6:161892510-161892511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189989571	chr6:161892517-161892518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145759712	chr6:161892522-161892523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530742251	chr6:161892608-161892609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148942174	chr6:161892615-161892616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543918755	chr6:161892656-161892657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142874290	chr6:161892661-161892662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161867600-161897800	Weak transcription	Pancreas	Pancrea
2	chr6:161879600-161900800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:161884400-161898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:161886200-161896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:161894400-161897400	Weak transcription	HSMMtube	muscle
6	chr6:161896000-161896400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:161896400-161897600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:161897200-161897600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:161897200-161897600	Enhancers	Fetal Brain Male	brain
10	chr6:161897200-161898200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:161897400-161897600	Enhancers	NH-A	brain
12	chr6:161897400-161897800	Enhancers	HSMMtube	muscle
13	chr6:161897600-161897800	Active TSS	Brain Hippocampus Middle	brain
14	chr6:161897600-161897800	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr6:161897600-161898000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:161897600-161898000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:161897600-161898000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:161897600-161898000	Weak transcription	Fetal Brain Male	brain
19	chr6:161897600-161898000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:161897600-161898000	Enhancers	Fetal Muscle Leg	muscle
21	chr6:161897600-161898000	Active TSS	Left Ventricle	heart
22	chr6:161897600-161898000	Active TSS	Psoas Muscle	Psoas
23	chr6:161897600-161898000	Enhancers	HSMM	muscle
24	chr6:161897600-161898000	Flanking Active TSS	NH-A	brain
25	chr6:161897600-161898200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:161897600-161898200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:161897600-161898200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:161897600-161898200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr6:161897600-161898200	Enhancers	HMEC	breast
30	chr6:161897800-161898000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:161897800-161898000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr6:161897800-161898000	ZNF genes & repeats	Pancreas	Pancrea
33	chr6:161897800-161898000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr6:161897800-161898200	Active TSS	Fetal Brain Female	brain
35	chr6:161897800-161901600	Weak transcription	HSMMtube	muscle
36	chr6:161898000-161898200	Enhancers	Fetal Brain Male	brain
37	chr6:161898000-161898200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:161898000-161898200	Enhancers	NH-A	brain
39	chr6:161898000-161900800	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:161898000-161900800	Weak transcription	Psoas Muscle	Psoas
41	chr6:161898000-161901000	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:161898000-161903400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:161898000-161903600	Weak transcription	Left Ventricle	heart
44	chr6:161898000-161905600	Weak transcription	Pancreas	Pancrea
45	chr6:161898200-161898400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:161898200-161900600	Weak transcription	Fetal Brain Female	brain
47	chr6:161898200-161900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:161898200-161900800	Weak transcription	Fetal Brain Male	brain
49	chr6:161898200-161900800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:161898200-161901600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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