Variant report

Variant	nsv818452
Chromosome Location	chr6:119895316-119915332
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	chr6:119896440..119899019-chr6:119899614..119901233,2	K562	blood:
2	chr6:119893616..119895863-chr6:119897291..119899011,2	K562	blood:
3	chr6:119887882..119890557-chr6:119911276..119913826,2	K562	blood:
4	chr6:119886595..119888334-chr6:119896347..119899016,2	K562	blood:
5	chr6:119897579..119900038-chr6:119904447..119906028,2	K562	blood:
6	chr6:119877630..119879253-chr6:119896427..119898133,2	MCF-7	breast:
7	chr6:119904409..119907006-chr6:119913661..119916610,3	K562	blood:
8	chr6:119896440..119898598-chr6:119899733..119902387,3	K562	blood:
9	chr6:119906720..119909415-chr6:119909700..119911588,2	K562	blood:
10	chr6:119897579..119900038-chr6:119904447..119906028,2	K562	blood:
11	chr6:119896440..119899019-chr6:119899614..119901233,2	K562	blood:
12	chr6:119886809..119890000-chr6:119899522..119901622,3	K562	blood:
13	chr6:119911222..119913281-chr6:119914244..119916111,2	K562	blood:
14	chr6:119669730..119672145-chr6:119907178..119910018,3	MCF-7	breast:
15	chr6:119904409..119907006-chr6:119913661..119916610,3	K562	blood:
16	chr6:119888384..119890000-chr6:119898868..119901022,2	K562	blood:
17	chr6:119906720..119909415-chr6:119909700..119911588,2	K562	blood:
18	chr6:119893616..119895863-chr6:119897291..119899011,2	K562	blood:
19	chr6:119911222..119913281-chr6:119914244..119916111,2	K562	blood:
20	chr6:119889158..119891193-chr6:119895559..119898663,3	K562	blood:
21	chr6:119913316..119915387-chr6:119941334..119943937,2	MCF-7	breast:
22	chr6:119896440..119898598-chr6:119899733..119902387,3	K562	blood:
23	chr6:119901984..119904533-chr6:119906505..119908924,3	K562	blood:
24	chr6:119901984..119904533-chr6:119906505..119908924,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111885	chromatin interactions

Extended variants
information (count: 704 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10872182	chr6:119895316-119895317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183771967	chr6:119895360-119895361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34907332	chr6:119895378-119895379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543389546	chr6:119895379-119895380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1287999	chr6:119895416-119895417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111457539	chr6:119895439-119895440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191644591	chr6:119895479-119895480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530096404	chr6:119895505-119895506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552019453	chr6:119895532-119895533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545251840	chr6:119895541-119895542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570425124	chr6:119895556-119895557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546690732	chr6:119895580-119895581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546264691	chr6:119895629-119895630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560712399	chr6:119895635-119895636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566504692	chr6:119895689-119895690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527995110	chr6:119895704-119895705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549658101	chr6:119895725-119895726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185371900	chr6:119895732-119895733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555198341	chr6:119895765-119895766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568825100	chr6:119895816-119895817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531735796	chr6:119895860-119895861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537619400	chr6:119895898-119895899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190098032	chr6:119895923-119895924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578021983	chr6:119895936-119895937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540759778	chr6:119895968-119895969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146114699	chr6:119895972-119895973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574036268	chr6:119896026-119896027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181769039	chr6:119896027-119896028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550340104	chr6:119896057-119896058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563142215	chr6:119896058-119896059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377637358	chr6:119896090-119896091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532067334	chr6:119896098-119896099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187379090	chr6:119896105-119896106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565510929	chr6:119896176-119896177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533837329	chr6:119896180-119896181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113288480	chr6:119896182-119896183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7773889	chr6:119896191-119896192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111458650	chr6:119896192-119896193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553955431	chr6:119896258-119896259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9481941	chr6:119896269-119896270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568788302	chr6:119896314-119896315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189303348	chr6:119896320-119896321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557657835	chr6:119896323-119896324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369556953	chr6:119896350-119896351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571465852	chr6:119896431-119896432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533750741	chr6:119896432-119896433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554197035	chr6:119896458-119896459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13201317	chr6:119896474-119896475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142805361	chr6:119896478-119896479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533842536	chr6:119896592-119896593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119887400-119896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:119896600-119896800	Active TSS	Osteobl	bone
3	chr6:119896600-119897200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:119896600-119897400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:119896600-119897400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:119896600-119897400	Enhancers	HSMM	muscle
7	chr6:119896600-119897400	Enhancers	NH-A	brain
8	chr6:119896600-119897600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:119896600-119897600	Enhancers	HMEC	breast
10	chr6:119896600-119897600	Enhancers	NHEK	skin
11	chr6:119896800-119897000	Enhancers	NHLF	lung
12	chr6:119896800-119897000	Flanking Active TSS	Osteobl	bone
13	chr6:119896800-119897600	Enhancers	NHDF-Ad	bronchial
14	chr6:119897000-119897600	Enhancers	Osteobl	bone
15	chr6:119897600-119908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:119905200-119905600	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:119905600-119906000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:119906000-119906200	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:119906200-119910000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:119907200-119909000	Enhancers	GM12878-XiMat	blood
21	chr6:119908200-119908600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:119908200-119908800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr6:119908200-119909200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:119908400-119908800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:119908400-119909000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:119908600-119909200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:119908600-119911400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:119908800-119909000	Enhancers	Osteobl	bone
29	chr6:119908800-119909200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:119908800-119909200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:119908800-119909200	Enhancers	HMEC	breast
32	chr6:119908800-119909800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:119909200-119911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:119909200-119911400	Weak transcription	HMEC	breast
35	chr6:119909400-119911400	Weak transcription	Osteobl	bone
36	chr6:119909800-119910000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:119910800-119912200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:119911000-119912000	Enhancers	K562	blood
39	chr6:119911200-119911800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:119911400-119911800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:119911400-119911800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:119911400-119911800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:119911400-119911800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:119911400-119912400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:119911400-119912600	Enhancers	HMEC	breast
46	chr6:119911400-119912600	Enhancers	Osteobl	bone
47	chr6:119911400-119912800	Enhancers	NHEK	skin
48	chr6:119911600-119912600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:119911800-119916000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:119912400-119923200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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