Variant report

Variant	nsv883223
Chromosome Location	chr5:178576631-178630445
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178583720..178585825-chr5:178586641..178588375,2	K562	blood:
2	chr5:178605312..178606812-chr7:157081682..157083546,2	MCF-7	breast:
3	chr5:178593773..178595177-chr5:178920715..178921686,6	MCF-7	breast:
4	chr5:178579999..178581669-chr5:178587423..178589774,2	MCF-7	breast:
5	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
6	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
7	chr5:178595920..178597681-chr5:178605368..178607876,2	MCF-7	breast:
8	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
9	chr5:178583720..178585825-chr5:178586641..178588375,2	K562	blood:
10	chr5:178579999..178581669-chr5:178587423..178589774,2	MCF-7	breast:
11	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
12	chr5:178605814..178608090-chr5:178611906..178613466,2	MCF-7	breast:
13	chr5:178599047..178601683-chr5:178602682..178604778,3	K562	blood:
14	chr5:178605814..178608090-chr5:178611906..178613466,2	MCF-7	breast:
15	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
16	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
17	chr5:178594236..178594749-chr5:178920299..178921066,2	K562	blood:
18	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
19	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
20	chr5:178599047..178601683-chr5:178602682..178604778,3	K562	blood:
21	chr5:178595920..178597681-chr5:178605368..178607876,2	MCF-7	breast:

No data

Extended variants
information (count: 2527 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2527 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3756566	chr5:178576631-178576632	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546384601	chr5:178576634-178576635	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs3756567	chr5:178576680-178576681	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190743498	chr5:178576692-178576693	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572054599	chr5:178576701-178576702	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184165934	chr5:178576703-178576704	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530597507	chr5:178576732-178576733	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557559903	chr5:178576763-178576764	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577549107	chr5:178576769-178576770	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11746428	chr5:178576805-178576806	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs188665835	chr5:178576829-178576830	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563199659	chr5:178576940-178576941	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs575151964	chr5:178576976-178576977	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs542254104	chr5:178576990-178576991	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs560451149	chr5:178577101-178577102	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs527681555	chr5:178577120-178577121	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs368327788	chr5:178577122-178577123	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs72521483	chr5:178577124-178577125	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs374949969	chr5:178577129-178577130	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs28473462	chr5:178577130-178577131	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs550597193	chr5:178577132-178577133	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs564408997	chr5:178577139-178577140	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs3839275	chr5:178577141-178577142	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs531430602	chr5:178577153-178577154	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs549534448	chr5:178577159-178577160	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs2411908	chr5:178577231-178577232	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533565191	chr5:178577244-178577245	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs56733204	chr5:178577245-178577246	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2411907	chr5:178577267-178577268	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143871229	chr5:178577290-178577291	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs527442088	chr5:178577329-178577330	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557866099	chr5:178577358-178577359	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576181012	chr5:178577368-178577369	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2411906	chr5:178577392-178577393	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs556754905	chr5:178577483-178577484	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2411905	chr5:178577487-178577488	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542557739	chr5:178577498-178577499	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558317977	chr5:178577544-178577545	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572436205	chr5:178577557-178577558	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs58879463	chr5:178577564-178577565	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs35814218	chr5:178577570-178577571	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146851932	chr5:178577573-178577574	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111240301	chr5:178577588-178577589	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114937014	chr5:178577589-178577590	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529048607	chr5:178577592-178577593	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs193171648	chr5:178577653-178577654	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs565816472	chr5:178577685-178577686	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539444586	chr5:178577709-178577710	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551057481	chr5:178577757-178577758	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73807256	chr5:178577769-178577770	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178549400-178590800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:178551600-178582800	Weak transcription	Right Atrium	heart
3	chr5:178554000-178587800	Weak transcription	Colonic Mucosa	Colon
4	chr5:178557000-178585400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:178560200-178578400	Weak transcription	Aorta	Aorta
6	chr5:178563200-178579000	Weak transcription	Fetal Lung	lung
7	chr5:178565200-178582600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:178565600-178579400	Weak transcription	Ovary	ovary
9	chr5:178567000-178594000	Weak transcription	Gastric	stomach
10	chr5:178567200-178581000	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:178570800-178579600	Weak transcription	HSMM	muscle
12	chr5:178570800-178593800	Weak transcription	NHDF-Ad	bronchial
13	chr5:178573600-178582800	Weak transcription	Fetal Brain Male	brain
14	chr5:178574400-178586400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:178574600-178583000	Weak transcription	Liver	Liver
16	chr5:178574600-178583400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:178574800-178581600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:178574800-178583000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:178574800-178590400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:178575000-178583400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:178575000-178589400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:178575200-178583200	Strong transcription	Fetal Stomach	stomach
23	chr5:178575200-178587000	Strong transcription	Osteobl	bone
24	chr5:178575600-178580800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr5:178575600-178583200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:178575600-178583200	Strong transcription	Adipose Nuclei	Adipose
27	chr5:178575800-178577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:178575800-178578600	Strong transcription	Spleen	Spleen
29	chr5:178575800-178582400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:178575800-178583000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr5:178576200-178582000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:178576200-178582000	Strong transcription	NHLF	lung
33	chr5:178576600-178579600	Strong transcription	HSMMtube	muscle
34	chr5:178576800-178577200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr5:178577000-178577400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:178577200-178577400	Enhancers	Fetal Muscle Trunk	muscle
37	chr5:178577400-178578000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:178577400-178579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:178578000-178578200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:178578000-178578800	Enhancers	Fetal Muscle Trunk	muscle
41	chr5:178578400-178579600	Strong transcription	Aorta	Aorta
42	chr5:178578400-178587800	Weak transcription	Fetal Intestine Small	intestine
43	chr5:178578600-178582000	Genic enhancers	Spleen	Spleen
44	chr5:178578600-178582800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:178578800-178579600	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr5:178579000-178581000	Strong transcription	Fetal Lung	lung
47	chr5:178579200-178579600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:178579400-178579800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:178579400-178581000	Strong transcription	Ovary	ovary
50	chr5:178579600-178579800	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links