Variant report

Variant	nsv237149
Chromosome Location	chr3:56732922-56738481
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:56736190..56737159-chr3:57022630..57023612,7	MCF-7	breast:
2	chr3:56736341..56737233-chr3:57022591..57023531,10	K562	blood:
3	chr3:56716874..56719252-chr3:56732973..56734497,2	MCF-7	breast:
4	chr3:56715683..56718669-chr3:56731865..56734737,3	K562	blood:
5	chr3:56736568..56737216-chr3:56833111..56833995,3	MCF-7	breast:
6	chr3:56736327..56737140-chr3:57022655..57023541,4	MCF-7	breast:
7	chr3:56736462..56736971-chr3:56833448..56834355,2	MCF-7	breast:
8	chr3:56736663..56737335-chr3:56833565..56834496,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163946	chromatin interactions

Extended variants
information (count: 250 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373096270	chr3:56733044-56733045	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530348697	chr3:56733068-56733069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1602190	chr3:56733070-56733071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs1844477	chr3:56733094-56733095	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374073434	chr3:56733130-56733131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538891675	chr3:56733146-56733147	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56220204	chr3:56733320-56733321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs56137365	chr3:56733348-56733349	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565671720	chr3:56733361-56733362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4681746	chr3:56733384-56733385	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs554287604	chr3:56733406-56733407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574337588	chr3:56733466-56733467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543359905	chr3:56733483-56733484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553018188	chr3:56733535-56733536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79930754	chr3:56733550-56733551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577207902	chr3:56733552-56733553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578167908	chr3:56733566-56733567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559574934	chr3:56733578-56733579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527814192	chr3:56733617-56733618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377750464	chr3:56733650-56733651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576238314	chr3:56733665-56733666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112644484	chr3:56733666-56733667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs199680406	chr3:56733693-56733694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111361824	chr3:56733696-56733697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530064867	chr3:56733714-56733715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371463907	chr3:56733717-56733718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545289136	chr3:56733721-56733722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549761141	chr3:56733723-56733724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11712278	chr3:56733738-56733739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs532651811	chr3:56733745-56733746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374145942	chr3:56733781-56733782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11712256	chr3:56733797-56733798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566233816	chr3:56733808-56733809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs139747725	chr3:56733880-56733881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548226589	chr3:56733889-56733890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543547362	chr3:56733932-56733933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144545410	chr3:56733935-56733936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371957680	chr3:56733945-56733946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201283347	chr3:56733946-56733947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs386396719	chr3:56733952-56733953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546029918	chr3:56733957-56733958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373290276	chr3:56733958-56733959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199564691	chr3:56733979-56733980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556989254	chr3:56734008-56734009	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12490770	chr3:56734026-56734027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577246991	chr3:56734031-56734032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181744170	chr3:56734045-56734046	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553226393	chr3:56734066-56734067	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572959672	chr3:56734083-56734084	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541177019	chr3:56734084-56734085	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56725800-56734000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:56726000-56734000	Weak transcription	NHEK	skin
3	chr3:56728000-56733000	Weak transcription	Placenta	Placenta
4	chr3:56729800-56738600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr3:56730000-56733000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:56730000-56738600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:56730400-56738600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:56731000-56736400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr3:56731000-56736400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:56731000-56736400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:56731000-56736800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:56731000-56736800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:56731200-56734000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:56731200-56734200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:56731200-56736400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:56731200-56736400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:56731200-56738600	Weak transcription	Primary T cells from cord blood	blood
18	chr3:56731200-56738600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:56731200-56738600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:56733000-56733400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:56733000-56734000	Enhancers	Placenta	Placenta
22	chr3:56733400-56738600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:56734000-56734400	Weak transcription	Placenta	Placenta
24	chr3:56734000-56734600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:56734000-56734600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:56734000-56734800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:56734000-56734800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:56734000-56734800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:56734000-56734800	Enhancers	HMEC	breast
30	chr3:56734000-56734800	Enhancers	NHEK	skin
31	chr3:56734200-56734600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:56734200-56734600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:56734200-56734600	Enhancers	HepG2	liver
34	chr3:56734200-56734800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:56734200-56734800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:56734200-56735000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr3:56734400-56734600	Enhancers	Placenta	Placenta
38	chr3:56734600-56735200	Enhancers	Fetal Brain Male	brain
39	chr3:56734600-56736400	Weak transcription	Placenta	Placenta
40	chr3:56734600-56736400	Weak transcription	HepG2	liver
41	chr3:56734800-56736000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:56734800-56736000	Weak transcription	HMEC	breast
43	chr3:56734800-56756400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:56735200-56736400	Weak transcription	Fetal Brain Male	brain
45	chr3:56736400-56736600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:56736400-56736600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:56736400-56736600	Enhancers	HMEC	breast
48	chr3:56736400-56737000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:56736400-56737000	Enhancers	Brain Cingulate Gyrus	brain
50	chr3:56736400-56737000	Enhancers	Fetal Muscle Leg	muscle

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