Variant report

Variant	nsv508234
Chromosome Location	chr3:105549864-105565806
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:105553976..105556329-chr3:105573888..105575863,2	MCF-7	breast:
2	chr3:105552724..105554590-chr3:105555325..105557862,2	K562	blood:
3	chr3:105552724..105554590-chr3:105555325..105557862,2	K562	blood:
4	chr3:105552676..105554224-chr3:105555679..105557862,2	K562	blood:
5	chr3:105552906..105555738-chr3:105560216..105562214,2	K562	blood:
6	chr3:105552676..105554224-chr3:105555679..105557862,2	K562	blood:
7	chr3:105533973..105536078-chr3:105552694..105554794,2	K562	blood:
8	chr3:105546357..105547931-chr3:105552831..105554477,2	K562	blood:
9	chr3:105552906..105555738-chr3:105560216..105562214,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD47-8	chr3:105565135-105569968	NONHSAT090970

No data

Extended variants
information (count: 557 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199559554	chr3:105549896-105549897	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs549020974	chr3:105549940-105549941	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567597695	chr3:105549950-105549951	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184304010	chr3:105549999-105550000	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs188459519	chr3:105550008-105550009	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551970678	chr3:105550011-105550012	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571460808	chr3:105550063-105550064	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541297196	chr3:105550087-105550088	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115894882	chr3:105550131-105550132	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565562845	chr3:105550139-105550140	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556919219	chr3:105550166-105550167	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79374549	chr3:105550190-105550191	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs554252914	chr3:105550192-105550193	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs148159098	chr3:105550238-105550239	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs181079386	chr3:105550245-105550246	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556348483	chr3:105550246-105550247	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184198472	chr3:105550265-105550266	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545192493	chr3:105550266-105550267	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560598131	chr3:105550353-105550354	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs374297676	chr3:105550358-105550359	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188934667	chr3:105550377-105550378	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543032739	chr3:105550382-105550383	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141165009	chr3:105550385-105550386	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531680309	chr3:105550447-105550448	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs367995213	chr3:105550455-105550456	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550063188	chr3:105550614-105550615	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565078662	chr3:105550671-105550672	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532307949	chr3:105550693-105550694	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564566419	chr3:105550702-105550703	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573400267	chr3:105550706-105550707	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547192494	chr3:105550724-105550725	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565802515	chr3:105550786-105550787	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs540821016	chr3:105550819-105550820	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562397956	chr3:105550865-105550866	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181668422	chr3:105550868-105550869	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs569268404	chr3:105550871-105550872	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187078014	chr3:105550872-105550873	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs150714711	chr3:105550881-105550882	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7641527	chr3:105550927-105550928	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539252681	chr3:105550966-105550967	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs532257331	chr3:105551007-105551008	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551261223	chr3:105551035-105551036	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139598236	chr3:105551103-105551104	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191909400	chr3:105551162-105551163	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs55949717	chr3:105551172-105551173	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371848422	chr3:105551217-105551218	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562491649	chr3:105551220-105551221	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561277479	chr3:105551226-105551227	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147153502	chr3:105551309-105551310	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140513441	chr3:105551410-105551411	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
3	chr3:105528400-105553600	Weak transcription	Fetal Kidney	kidney
4	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:105533800-105570000	Weak transcription	Dnd41	blood
7	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
8	chr3:105535600-105553800	Weak transcription	Fetal Brain Male	brain
9	chr3:105539400-105551600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
11	chr3:105541000-105554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:105541800-105553600	Weak transcription	Fetal Brain Female	brain
13	chr3:105542200-105553600	Weak transcription	Liver	Liver
14	chr3:105542200-105554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:105542600-105555400	Weak transcription	Brain Angular Gyrus	brain
16	chr3:105542600-105566000	Weak transcription	Fetal Stomach	stomach
17	chr3:105542800-105554400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:105543000-105555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:105543200-105550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:105543200-105551600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:105543400-105555800	Weak transcription	HepG2	liver
22	chr3:105543400-105560800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:105543400-105581200	Weak transcription	Gastric	stomach
24	chr3:105543600-105551000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:105543600-105557200	Weak transcription	Fetal Intestine Large	intestine
26	chr3:105543800-105551400	Weak transcription	HSMMtube	muscle
27	chr3:105543800-105571000	Weak transcription	Lung	lung
28	chr3:105544000-105554400	Weak transcription	Fetal Lung	lung
29	chr3:105544200-105554400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:105544200-105559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:105544200-105584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:105545400-105553000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr3:105545600-105550000	Genic enhancers	Osteobl	bone
34	chr3:105545800-105551800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:105546000-105552400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:105546200-105550400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr3:105546200-105552200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr3:105546400-105552200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr3:105546600-105550800	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:105546600-105551200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:105546600-105586200	Weak transcription	Esophagus	oesophagus
42	chr3:105546800-105553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:105546800-105560800	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:105547000-105551000	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:105547200-105551400	Weak transcription	Fetal Heart	heart
46	chr3:105547200-105551600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:105547200-105553600	Weak transcription	Hela-S3	cervix
48	chr3:105547200-105554600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:105547200-105554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:105547200-105554800	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links