Variant report

Variant	nsv536626
Chromosome Location	chr3:85527837-85578368
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
2	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
3	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
4	chr3:85516644..85518723-chr3:85527589..85529747,2	K562	blood:
5	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
6	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
7	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
8	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
9	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
10	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
11	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
12	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
13	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
14	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
15	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
16	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
17	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
18	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
19	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
20	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
21	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
22	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
23	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
24	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
25	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
26	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
27	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
28	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
29	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
30	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
31	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
32	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
33	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
34	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
35	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
36	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
37	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
38	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
39	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
40	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
41	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
42	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
43	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
44	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
45	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
46	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:

No data

Extended variants
information (count: 1448 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1448 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548798826	chr3:85527850-85527851	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181583535	chr3:85527953-85527954	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528391961	chr3:85527967-85527968	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185051889	chr3:85528016-85528017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17449172	chr3:85528029-85528030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35046909	chr3:85528064-85528065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199758053	chr3:85528083-85528084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571535778	chr3:85528131-85528132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538296750	chr3:85528177-85528178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557018491	chr3:85528201-85528202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190147965	chr3:85528204-85528205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564457115	chr3:85528266-85528267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114107621	chr3:85528276-85528277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555220198	chr3:85528356-85528357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75995834	chr3:85528373-85528374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536820304	chr3:85528390-85528391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573528003	chr3:85528408-85528409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534502807	chr3:85528440-85528441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149304170	chr3:85528502-85528503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10511086	chr3:85528536-85528537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562879357	chr3:85528546-85528547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544307717	chr3:85528593-85528594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200442004	chr3:85528594-85528595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397875084	chr3:85528596-85528597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574609027	chr3:85528597-85528598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182267517	chr3:85528631-85528632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187363173	chr3:85528713-85528714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553152732	chr3:85528746-85528747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528330296	chr3:85528752-85528753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376225581	chr3:85528777-85528778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372386778	chr3:85528821-85528822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546865065	chr3:85528842-85528843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565082036	chr3:85528854-85528855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35992585	chr3:85528876-85528877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576476925	chr3:85528914-85528915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115204437	chr3:85528934-85528935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190044284	chr3:85528946-85528947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79785461	chr3:85528954-85528955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536376977	chr3:85528955-85528956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369252600	chr3:85528967-85528968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116454827	chr3:85528995-85528996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111634358	chr3:85529011-85529012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180691294	chr3:85529037-85529038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535654363	chr3:85529040-85529041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577501322	chr3:85529046-85529047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538204480	chr3:85529055-85529056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556305159	chr3:85529160-85529161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185739426	chr3:85529161-85529162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541930647	chr3:85529177-85529178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71316804	chr3:85529202-85529203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
2	chr3:85522600-85530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:85523600-85530600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:85525200-85530600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:85526800-85530600	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:85526800-85530600	Weak transcription	Psoas Muscle	Psoas
7	chr3:85527600-85528000	Active TSS	Osteobl	bone
8	chr3:85527600-85530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:85527800-85530400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:85528000-85530600	Weak transcription	Osteobl	bone
11	chr3:85528200-85530800	Weak transcription	Brain Anterior Caudate	brain
12	chr3:85528600-85528800	Enhancers	Brain Angular Gyrus	brain
13	chr3:85528600-85529000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:85528800-85530600	Weak transcription	Brain Angular Gyrus	brain
15	chr3:85530400-85530600	Enhancers	Brain Substantia Nigra	brain
16	chr3:85530400-85531400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:85530600-85530800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:85530600-85530800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:85530600-85530800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr3:85530600-85530800	Flanking Active TSS	Osteobl	bone
21	chr3:85530600-85531000	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr3:85530600-85531000	Active TSS	HSMM	muscle
23	chr3:85530600-85531400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:85530600-85531400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:85530600-85531400	Active TSS	Brain Angular Gyrus	brain
26	chr3:85530600-85531600	Active TSS	Brain Substantia Nigra	brain
27	chr3:85530600-85531800	Active TSS	Psoas Muscle	Psoas
28	chr3:85530800-85531200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:85530800-85531200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr3:85530800-85531200	Active TSS	Osteobl	bone
31	chr3:85530800-85531400	Active TSS	Brain Anterior Caudate	brain
32	chr3:85530800-85531800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr3:85531000-85531600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:85531000-85531600	Active TSS	A549	lung
35	chr3:85531000-85531800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:85531000-85531800	Enhancers	Adipose Nuclei	Adipose
37	chr3:85531000-85531800	Active TSS	Brain Hippocampus Middle	brain
38	chr3:85531000-85534600	Weak transcription	HSMM	muscle
39	chr3:85531200-85531400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:85531200-85531400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:85531200-85531600	Active TSS	K562	blood
42	chr3:85531200-85533000	Weak transcription	Osteobl	bone
43	chr3:85531400-85531800	Enhancers	Brain Angular Gyrus	brain
44	chr3:85531400-85531800	Enhancers	Brain Anterior Caudate	brain
45	chr3:85531400-85533000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:85531600-85531800	Enhancers	Brain Cingulate Gyrus	brain
47	chr3:85531600-85533600	Weak transcription	K562	blood
48	chr3:85531800-85533200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:85531800-85533400	Weak transcription	Brain Angular Gyrus	brain
50	chr3:85533000-85533200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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