Variant report

Variant	nsv886132
Chromosome Location	chr6:69487204-69610281
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:69450619..69452838-chr6:69487007..69488538,2	K562	blood:
2	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
3	chr6:69539548..69541597-chr6:69549180..69550705,2	K562	blood:
4	chr6:69481523..69484520-chr6:69489886..69492873,2	K562	blood:
5	chr6:69525260..69527994-chr6:69529936..69531969,2	K562	blood:
6	chr6:69581850..69584680-chr6:69586961..69588959,2	MCF-7	breast:
7	chr6:69449624..69452933-chr6:69485444..69489658,4	K562	blood:
8	chr6:69053685..69054306-chr6:69488036..69488952,2	MCF-7	breast:
9	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:
10	chr6:69484056..69486437-chr6:69489948..69492199,2	K562	blood:
11	chr6:69539780..69542315-chr6:69542926..69545081,3	K562	blood:
12	chr6:69556808..69559307-chr6:69561378..69564071,2	K562	blood:
13	chr6:69600022..69602620-chr6:69612742..69614990,2	K562	blood:
14	chr6:69537604..69539530-chr6:69540011..69542036,2	K562	blood:
15	chr6:69516061..69518089-chr6:70040944..70043117,2	K562	blood:
16	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:
17	chr6:69520163..69523309-chr6:69542767..69545788,3	K562	blood:
18	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:
19	chr6:69604221..69606284-chr6:69610913..69612679,2	K562	blood:
20	chr6:69517737..69519410-chr6:69526030..69528424,2	K562	blood:
21	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
22	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
23	chr6:69585748..69588195-chr6:69590931..69592487,2	K562	blood:
24	chr6:69513585..69517599-chr6:69517600..69520512,4	K562	blood:
25	chr6:69552565..69555289-chr6:69558230..69559935,2	K562	blood:
26	chr6:69355188..69356834-chr6:69487220..69489411,2	MCF-7	breast:
27	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:
28	chr6:69479313..69482227-chr6:69485193..69487773,3	K562	blood:
29	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
30	chr6:69556808..69559307-chr6:69561378..69564071,2	K562	blood:
31	chr6:69520163..69523309-chr6:69542767..69545788,3	K562	blood:
32	chr6:69282204..69283004-chr6:69488215..69489132,4	MCF-7	breast:
33	chr6:69586533..69588102-chr6:69667960..69668799,9	MCF-7	breast:
34	chr6:69540097..69542274-chr6:69548861..69550705,2	K562	blood:
35	chr17:56061214..56063201-chr6:69518793..69520402,2	MCF-7	breast:
36	chr6:69505056..69507180-chr6:69508619..69510511,3	K562	blood:
37	chr6:69504737..69507023-chr6:69507308..69508878,2	K562	blood:
38	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
39	chr6:69540097..69542274-chr6:69548861..69550705,2	K562	blood:
40	chr6:69505056..69507180-chr6:69508619..69510511,3	K562	blood:
41	chr6:69504737..69507023-chr6:69507308..69508878,2	K562	blood:
42	chr6:69587193..69588031-chr6:69865072..69865822,2	MCF-7	breast:
43	chr6:69347891..69348910-chr6:69488069..69489147,9	K562	blood:
44	chr6:69488300..69490179-chr6:69492286..69495172,2	K562	blood:
45	chr6:69347821..69348854-chr6:69488207..69489105,5	MCF-7	breast:
46	chr6:69539780..69542315-chr6:69542926..69545081,3	K562	blood:
47	chr6:69488300..69490179-chr6:69492286..69495172,2	K562	blood:
48	chr6:69344782..69345485-chr6:69488556..69489102,2	K562	blood:
49	chr6:69552565..69555289-chr6:69558230..69559935,2	K562	blood:
50	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230910	chromatin interactions
ENSG00000135298	chromatin interactions
ENSG00000136451	chromatin interactions

Extended variants
information (count: 4670 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4670 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2204285	chr6:69487204-69487205	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570272558	chr6:69487256-69487257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191582576	chr6:69487271-69487272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561795323	chr6:69487274-69487275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149895671	chr6:69487279-69487280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78174513	chr6:69487282-69487283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146448634	chr6:69487283-69487284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534699419	chr6:69487297-69487298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554296072	chr6:69487298-69487299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574345802	chr6:69487306-69487307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536959277	chr6:69487322-69487323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556794635	chr6:69487341-69487342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374981892	chr6:69487381-69487382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545637621	chr6:69487382-69487383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376164087	chr6:69487386-69487387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572848432	chr6:69487429-69487430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559108945	chr6:69487457-69487458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185344601	chr6:69487470-69487471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73745863	chr6:69487505-69487506	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577404596	chr6:69487509-69487510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561143104	chr6:69487522-69487523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140931740	chr6:69487525-69487526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143371254	chr6:69487543-69487544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561834409	chr6:69487561-69487562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550498731	chr6:69487574-69487575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564019248	chr6:69487575-69487576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532845916	chr6:69487600-69487601	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530109353	chr6:69487665-69487666	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544787713	chr6:69487708-69487709	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566241359	chr6:69487737-69487738	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188611008	chr6:69487738-69487739	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528196037	chr6:69487784-69487785	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563683709	chr6:69487834-69487835	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146737580	chr6:69487874-69487875	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567970000	chr6:69487875-69487876	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371339621	chr6:69487879-69487880	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9346240	chr6:69487880-69487881	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556534166	chr6:69487887-69487888	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570449725	chr6:69487909-69487910	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539327902	chr6:69487939-69487940	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370069640	chr6:69487952-69487953	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572961751	chr6:69488034-69488035	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530312151	chr6:69488068-69488069	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552223074	chr6:69488074-69488075	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555001183	chr6:69488118-69488119	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373497222	chr6:69488133-69488134	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117747000	chr6:69488135-69488136	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115048088	chr6:69488169-69488170	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148892999	chr6:69488270-69488271	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532882945	chr6:69488346-69488347	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69484600-69487600	Enhancers	Brain Anterior Caudate	brain
2	chr6:69484800-69490000	Enhancers	Fetal Brain Female	brain
3	chr6:69485000-69487600	Enhancers	Brain Cingulate Gyrus	brain
4	chr6:69485000-69490400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:69485600-69487600	Enhancers	Brain Hippocampus Middle	brain
6	chr6:69485600-69487600	Enhancers	Brain Substantia Nigra	brain
7	chr6:69485600-69488400	Weak transcription	K562	blood
8	chr6:69485800-69487600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr6:69486000-69487600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:69486200-69489600	Enhancers	Fetal Lung	lung
11	chr6:69486400-69487800	Enhancers	Brain Angular Gyrus	brain
12	chr6:69486400-69487800	Weak transcription	Fetal Brain Male	brain
13	chr6:69487200-69487600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:69487200-69487600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:69487600-69488000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:69487600-69488000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:69487600-69488200	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr6:69487600-69488200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:69487600-69488400	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr6:69487600-69488800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:69487600-69488800	Active TSS	Brain Substantia Nigra	brain
22	chr6:69487600-69489000	Enhancers	Fetal Heart	heart
23	chr6:69487600-69489200	Active TSS	Brain Hippocampus Middle	brain
24	chr6:69487600-69489400	Enhancers	Fetal Stomach	stomach
25	chr6:69487600-69491200	Enhancers	Brain Germinal Matrix	brain
26	chr6:69487800-69488400	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr6:69487800-69488600	Enhancers	NHDF-Ad	bronchial
28	chr6:69487800-69490400	Enhancers	Fetal Brain Male	brain
29	chr6:69487800-69490600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:69487800-69490600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:69488000-69488600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:69488000-69489200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:69488000-69489200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr6:69488200-69488600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:69488200-69489200	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:69488200-69489200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:69488400-69488600	Active TSS	Brain Angular Gyrus	brain
38	chr6:69488400-69488800	Active TSS	Brain Anterior Caudate	brain
39	chr6:69488400-69488800	Enhancers	NH-A	brain
40	chr6:69488400-69489000	Enhancers	K562	blood
41	chr6:69488400-69490000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:69488600-69489200	Enhancers	Brain Angular Gyrus	brain
43	chr6:69488800-69489600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr6:69488800-69489600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr6:69489200-69489400	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr6:69489200-69489400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:69489200-69489600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr6:69489200-69489600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr6:69489200-69489600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:69489200-69490600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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