Variant report

Variant	nsv590904
Chromosome Location	chr3:85438564-85551403
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:67)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:85508686..85510616-chr3:85515146..85516824,2	K562	blood:
2	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
3	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
4	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
5	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
6	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
7	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
8	chr3:85508686..85510616-chr3:85515146..85516824,2	K562	blood:
9	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
10	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
11	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
12	chr3:85453248..85455514-chr3:85462247..85464334,2	K562	blood:
13	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
14	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
15	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
16	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:
17	chr3:85453248..85455514-chr3:85462247..85464334,2	K562	blood:
18	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
19	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
20	chr3:85510863..85513429-chr3:85513950..85516943,2	MCF-7	breast:
21	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
22	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
23	chr3:85448906..85450732-chr3:85454290..85457141,2	K562	blood:
24	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
25	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
26	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
27	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
28	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
29	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
30	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
31	chr3:85457628..85458566-chr3:130193477..130193997,2	MCF-7	breast:
32	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
33	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
34	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
35	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
36	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
37	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
38	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
39	chr3:85454106..85456659-chr3:85459742..85462489,2	K562	blood:
40	chr3:85516644..85518723-chr3:85527589..85529747,2	K562	blood:
41	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
42	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
43	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
44	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
45	chr3:85454106..85456659-chr3:85459742..85462489,2	K562	blood:
46	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
47	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
48	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
49	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
50	chr3:85518552..85520271-chr3:85525173..85526982,2	K562	blood:

No data

Extended variants
information (count: 2569 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2569 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1821349	chr3:85438564-85438565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369016899	chr3:85438591-85438592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143273392	chr3:85438607-85438608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540241306	chr3:85438625-85438626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13092737	chr3:85438628-85438629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564953109	chr3:85438640-85438641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13092756	chr3:85438669-85438670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576886817	chr3:85438675-85438676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13092758	chr3:85438676-85438677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13092759	chr3:85438678-85438679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1368743	chr3:85438709-85438710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562688367	chr3:85438721-85438722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28735964	chr3:85438733-85438734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138894452	chr3:85438749-85438750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561004890	chr3:85438750-85438751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528407230	chr3:85438778-85438779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192997055	chr3:85438791-85438792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367956248	chr3:85438806-85438807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575491688	chr3:85438823-85438824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571270337	chr3:85438889-85438890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139856099	chr3:85439049-85439050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551713344	chr3:85439068-85439069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538687603	chr3:85439107-85439108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10511087	chr3:85439136-85439137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569012493	chr3:85439213-85439214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199772864	chr3:85439229-85439230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375074879	chr3:85439299-85439300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536428444	chr3:85439311-85439312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555171050	chr3:85439323-85439324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574550382	chr3:85439337-85439338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368161046	chr3:85439343-85439344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573424942	chr3:85439377-85439378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540340023	chr3:85439382-85439383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534518631	chr3:85439477-85439478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558477018	chr3:85439509-85439510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183476666	chr3:85439536-85439537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141942316	chr3:85439545-85439546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9824386	chr3:85439578-85439579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12633910	chr3:85439614-85439615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542431530	chr3:85439615-85439616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146315361	chr3:85439650-85439651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528332058	chr3:85439670-85439671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540533791	chr3:85439690-85439691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565223140	chr3:85439701-85439702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532135020	chr3:85439738-85439739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532141117	chr3:85439819-85439820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550629905	chr3:85439842-85439843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568836871	chr3:85439853-85439854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529816974	chr3:85439857-85439858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548454318	chr3:85439862-85439863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85416200-85450200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85437400-85440800	Weak transcription	Brain Substantia Nigra	brain
3	chr3:85438000-85439200	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:85438000-85440600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:85439600-85439800	Enhancers	Colon Smooth Muscle	Colon
6	chr3:85440200-85441200	Enhancers	Brain Hippocampus Middle	brain
7	chr3:85440600-85441000	Enhancers	Brain Cingulate Gyrus	brain
8	chr3:85440800-85442000	Enhancers	Brain Substantia Nigra	brain
9	chr3:85446400-85446600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr3:85446600-85450200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:85448600-85450200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:85450200-85450400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr3:85450200-85450400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:85450200-85450400	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:85450200-85450800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:85450400-85450600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:85450400-85452400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:85450400-85457800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:85450800-85451200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:85470200-85470800	Enhancers	Brain Germinal Matrix	brain
21	chr3:85470200-85471000	Enhancers	Fetal Brain Female	brain
22	chr3:85470400-85475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:85472200-85472800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr3:85472800-85473200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:85475400-85475600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:85476400-85477000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:85481200-85482000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:85482000-85482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:85482400-85482800	Enhancers	Fetal Lung	lung
30	chr3:85482400-85483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:85482600-85482800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:85485600-85486600	Enhancers	Brain Substantia Nigra	brain
33	chr3:85486000-85486600	Enhancers	Brain Hippocampus Middle	brain
34	chr3:85486200-85486800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:85503800-85504000	Enhancers	Brain Anterior Caudate	brain
36	chr3:85503800-85504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:85504000-85504600	Weak transcription	Brain Anterior Caudate	brain
38	chr3:85504600-85505000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr3:85504600-85505000	Enhancers	Brain Germinal Matrix	brain
40	chr3:85504600-85505400	Enhancers	Brain Anterior Caudate	brain
41	chr3:85504800-85505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:85504800-85505200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:85507200-85507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:85507600-85508000	Enhancers	Brain Substantia Nigra	brain
45	chr3:85507800-85512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:85508200-85509200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr3:85508400-85508600	Enhancers	Psoas Muscle	Psoas
48	chr3:85508600-85509800	Weak transcription	Psoas Muscle	Psoas
49	chr3:85509800-85510000	Enhancers	Psoas Muscle	Psoas
50	chr3:85510000-85510200	Weak transcription	Psoas Muscle	Psoas

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