Variant report

Variant	nsv526621
Chromosome Location	chr3:85470642-85667683
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:92)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
2	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
3	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
4	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
5	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
6	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
7	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
8	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
9	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
10	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
11	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
12	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
13	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
14	chr3:85468729..85471491-chr3:85479728..85483045,3	K562	blood:
15	chr3:85518552..85520271-chr3:85525173..85526982,2	K562	blood:
16	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:
17	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
18	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
19	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
20	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
21	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
22	chr3:85510863..85513429-chr3:85513950..85516943,2	MCF-7	breast:
23	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
24	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
25	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
26	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
27	chr3:85508686..85510616-chr3:85515146..85516824,2	K562	blood:
28	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
29	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
30	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
31	chr3:85508686..85510616-chr3:85515146..85516824,2	K562	blood:
32	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
33	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
34	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
35	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
36	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
37	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
38	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
39	chr3:85518552..85520271-chr3:85525173..85526982,2	K562	blood:
40	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
41	chr3:85468729..85471491-chr3:85479728..85483045,3	K562	blood:
42	chr3:85516644..85518723-chr3:85527589..85529747,2	K562	blood:
43	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
44	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
45	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
46	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
47	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
48	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
49	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
50	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:

No data

Extended variants
information (count: 5058 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5058 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2196096	chr3:85470642-85470643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2196097	chr3:85470645-85470646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370226173	chr3:85470648-85470649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78672701	chr3:85470651-85470652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564567157	chr3:85470662-85470663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532658753	chr3:85470670-85470671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62250688	chr3:85470684-85470685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs60311538	chr3:85470687-85470688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563699076	chr3:85470844-85470845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147277404	chr3:85470868-85470869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74502104	chr3:85470870-85470871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140685231	chr3:85470898-85470899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570271343	chr3:85470914-85470915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531587004	chr3:85470941-85470942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537415444	chr3:85470961-85470962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190410836	chr3:85470981-85470982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368956493	chr3:85470982-85470983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574017471	chr3:85471020-85471021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534776748	chr3:85471028-85471029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553076134	chr3:85471045-85471046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571879237	chr3:85471052-85471053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184038145	chr3:85471152-85471153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557991463	chr3:85471161-85471162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576258906	chr3:85471162-85471163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543745843	chr3:85471214-85471215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561518943	chr3:85471239-85471240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568403385	chr3:85471250-85471251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144059553	chr3:85471326-85471327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398106120	chr3:85471327-85471328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201219222	chr3:85471329-85471330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373852461	chr3:85471331-85471332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528932792	chr3:85471332-85471333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541106362	chr3:85471386-85471387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547596590	chr3:85471437-85471438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187344539	chr3:85471463-85471464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372446818	chr3:85471513-85471514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533532672	chr3:85471527-85471528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552015530	chr3:85471552-85471553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570284594	chr3:85471562-85471563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531110363	chr3:85471603-85471604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190957955	chr3:85471618-85471619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112762303	chr3:85471679-85471680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377205836	chr3:85471684-85471685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182609849	chr3:85471722-85471723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553012881	chr3:85471740-85471741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571416554	chr3:85471791-85471792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10433498	chr3:85471818-85471819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557663918	chr3:85471825-85471826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576226572	chr3:85471856-85471857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550720061	chr3:85471857-85471858	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:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85470200-85470800	Enhancers	Brain Germinal Matrix	brain
2	chr3:85470200-85471000	Enhancers	Fetal Brain Female	brain
3	chr3:85470400-85475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:85472200-85472800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr3:85472800-85473200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:85475400-85475600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:85476400-85477000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:85481200-85482000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:85482000-85482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:85482400-85482800	Enhancers	Fetal Lung	lung
11	chr3:85482400-85483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:85482600-85482800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:85485600-85486600	Enhancers	Brain Substantia Nigra	brain
14	chr3:85486000-85486600	Enhancers	Brain Hippocampus Middle	brain
15	chr3:85486200-85486800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:85503800-85504000	Enhancers	Brain Anterior Caudate	brain
17	chr3:85503800-85504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:85504000-85504600	Weak transcription	Brain Anterior Caudate	brain
19	chr3:85504600-85505000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:85504600-85505000	Enhancers	Brain Germinal Matrix	brain
21	chr3:85504600-85505400	Enhancers	Brain Anterior Caudate	brain
22	chr3:85504800-85505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:85504800-85505200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:85507200-85507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:85507600-85508000	Enhancers	Brain Substantia Nigra	brain
26	chr3:85507800-85512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:85508200-85509200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr3:85508400-85508600	Enhancers	Psoas Muscle	Psoas
29	chr3:85508600-85509800	Weak transcription	Psoas Muscle	Psoas
30	chr3:85509800-85510000	Enhancers	Psoas Muscle	Psoas
31	chr3:85510000-85510200	Weak transcription	Psoas Muscle	Psoas
32	chr3:85512000-85512600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:85512000-85512600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:85512200-85512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:85512200-85512600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:85512200-85513000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:85512600-85522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:85513000-85526000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:85517400-85518200	Enhancers	K562	blood
40	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
41	chr3:85519400-85519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:85519800-85520400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:85520400-85520600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:85520600-85522000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:85521800-85522600	Enhancers	Brain Anterior Caudate	brain
46	chr3:85521800-85523000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:85522000-85522200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:85522200-85522800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:85522400-85522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:85522400-85522600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links