Variant report

Variant	nsv829668
Chromosome Location	chr3:109956403-110095215
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:
2	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
3	chr3:109450507..109451352-chr3:110033129..110033977,4	MCF-7	breast:
4	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
5	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
6	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:
7	chr3:109250448..109251796-chr3:110033305..110033942,4	MCF-7	breast:
8	chr3:109956842..109959360-chr3:109959849..109962429,2	K562	blood:
9	chr3:109956842..109959360-chr3:109959849..109962429,2	K562	blood:
10	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:
11	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
12	chr3:110022159..110024501-chr6:145141877..145144734,2	MCF-7	breast:
13	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:
14	chr2:238935478..238936978-chr3:109983986..109985979,2	MCF-7	breast:

No data

Extended variants
information (count: 2825 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2825 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570541311	chr3:109956482-109956483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114353439	chr3:109956542-109956543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149283180	chr3:109956557-109956558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187552279	chr3:109956598-109956599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372705741	chr3:109956624-109956625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35982982	chr3:109956626-109956627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192773415	chr3:109956649-109956650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555937701	chr3:109956655-109956656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575741363	chr3:109956670-109956671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544969983	chr3:109956688-109956689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78528196	chr3:109956766-109956767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558465880	chr3:109956780-109956781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369412950	chr3:109956794-109956795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147372210	chr3:109956815-109956816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540248164	chr3:109956828-109956829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559865088	chr3:109956831-109956832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528984384	chr3:109956850-109956851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537464521	chr3:109956913-109956914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11370467	chr3:109956920-109956921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139489653	chr3:109956930-109956931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12053963	chr3:109957126-109957127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562741286	chr3:109957139-109957140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143434299	chr3:109957158-109957159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147132658	chr3:109957220-109957221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557404182	chr3:109957321-109957322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374041172	chr3:109957322-109957323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571226245	chr3:109957387-109957388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185446204	chr3:109957460-109957461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546977194	chr3:109957510-109957511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566712463	chr3:109957530-109957531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75781601	chr3:109957566-109957567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555578406	chr3:109957595-109957596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369514558	chr3:109957654-109957655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2399294	chr3:109957694-109957695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71323132	chr3:109957704-109957705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12488172	chr3:109957707-109957708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2399295	chr3:109957719-109957720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577297764	chr3:109957749-109957750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534177873	chr3:109957761-109957762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2399296	chr3:109957804-109957805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2399297	chr3:109957831-109957832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2399298	chr3:109957866-109957867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562430342	chr3:109957898-109957899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114206282	chr3:109958028-109958029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544827338	chr3:109958056-109958057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181373381	chr3:109958079-109958080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527590590	chr3:109958105-109958106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184318848	chr3:109958107-109958108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560581816	chr3:109958152-109958153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2035128	chr3:109958178-109958179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109954200-109956800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:109954200-109956800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:109954400-109957800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:109954800-109956800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:109954800-109956800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:109955000-109956800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:109956200-109957000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:109956400-109958000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:109956400-109961200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:109958000-109959000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:109959000-109959200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:109965600-109967800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:109966000-109967600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:109967200-109968400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:109978400-109978800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:109978800-109983800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:109979800-109980400	Enhancers	Fetal Lung	lung
18	chr3:109980000-109982000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:109980200-109980400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:109980400-109981800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:109980400-109981800	Weak transcription	Fetal Lung	lung
22	chr3:109981600-109982200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:109981600-109983600	Enhancers	Fetal Intestine Small	intestine
24	chr3:109981800-109982000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:109981800-109982200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:109981800-109982200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:109981800-109982200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:109981800-109982200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:109981800-109982200	Enhancers	Fetal Lung	lung
30	chr3:109981800-109982400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:109981800-109982600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:109981800-109985200	Enhancers	Ovary	ovary
33	chr3:109982000-109982800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:109982200-109982400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:109982200-109983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:109982200-109984000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:109982200-109984600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:109982400-109983200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:109982600-109983800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:109982800-109983200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:109983200-109984200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:109983400-109984800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:109983800-109984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:109983800-109984600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:109983800-109984600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:109983800-109985000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:109983800-109985200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:109983800-109985600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:109984000-109984400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:109984000-109985400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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