Variant report

Variant	esv1851643
Chromosome Location	chr5:177133426-177145919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:177142429-177142496	GM10248	blood:	n/a	n/a
2	CTCF	chr5:177135200-177135233	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr5:177135307-177135407	GM20000	blood:	n/a	n/a
4	MYC	chr5:177139591-177139681	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:177143523-177143590	Gliobla	brain:	n/a	n/a
6	POLR2A	chr5:177143818-177143935	A549	lung:	n/a	n/a
7	TBP	chr5:177134839-177134902	K562	blood:	n/a	n/a
8	ZNF384	chr5:177136024-177136224	K562	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-4	chr5:177141050-177141178	NONHSAT105455
2	lnc-FAM193B-4	chr5:177145450-177145570	NONHSAT105456
3	lnc-FAM193B-4	chr5:177145450-177145570	NONHSAT105457
4	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT105457
5	lnc-FAM193B-4	chr5:177143346-177143416	NONHSAT105457
6	lnc-FAM193B-4	chr5:177139134-177140171	NONHSAT105457
7	lnc-FAM193B-4	chr5:177140026-177140171	NONHSAT147372
8	lnc-FAM193B-4	chr5:177139134-177140171	NONHSAT105456
9	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT147372
10	lnc-FAM193B-4	chr5:177143346-177143367	NONHSAT105455
11	lnc-FAM193B-4	chr5:177144164-177144297	NONHSAT105456
12	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105457
13	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT147372
14	lnc-FAM193B-4	chr5:177139121-177140171	NONHSAT105455
15	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105456
16	lnc-FAM193B-4	chr5:177143346-177143364	NONHSAT147372
17	lnc-RP11-1026M7.2.1-2	chr5:177140798-177140970	ENSG00000249849.1
18	lnc-RP11-1026M7.2.1-2	chr5:177133707-177133886	ENSG00000249849.1
19	lnc-FAM193B-4	chr5:177140795-177140917	NONHSAT105458
20	lnc-FAM193B-4	chr5:177145148-177145334	NONHSAT105457
21	lnc-FAM193B-4	chr5:177144164-177144297	NONHSAT105457
22	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105455
23	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT105456
24	lnc-FAM193B-4	chr5:177141070-177141181	NONHSAT105458

No data

Variant related genes	Relation type
FAM153A	TF binding region

Extended variants
information (count: 281 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559064869	chr5:177133806-177133807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs1696909	chr5:177133829-177133830	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs556599467	chr5:177133839-177133840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs575114966	chr5:177133855-177133856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs572094399	chr5:177137414-177137415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185623057	chr5:177137424-177137425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371307594	chr5:177137491-177137492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369107815	chr5:177137497-177137498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564056314	chr5:177137627-177137628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531476358	chr5:177137679-177137680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113320415	chr5:177137697-177137698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543542022	chr5:177137744-177137745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574938243	chr5:177137766-177137767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561740059	chr5:177137846-177137847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529040894	chr5:177137877-177137878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189423999	chr5:177137937-177137938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145454843	chr5:177137958-177137959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533034630	chr5:177138058-177138059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544882537	chr5:177138112-177138113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544089797	chr5:177138166-177138167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181943664	chr5:177138251-177138252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11748057	chr5:177138274-177138275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570502718	chr5:177138281-177138282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6601075	chr5:177138298-177138299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs529944055	chr5:177138305-177138306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184213675	chr5:177138318-177138319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568576801	chr5:177138336-177138337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540395916	chr5:177138364-177138365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188966346	chr5:177138381-177138382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560108436	chr5:177138421-177138422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114914260	chr5:177138425-177138426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113653651	chr5:177138505-177138506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6866477	chr5:177138515-177138516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs552418756	chr5:177138526-177138527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3104691	chr5:177138536-177138537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181196751	chr5:177138538-177138539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3104692	chr5:177138569-177138570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186515316	chr5:177138581-177138582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10064983	chr5:177138597-177138598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561785632	chr5:177138621-177138622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529096901	chr5:177138627-177138628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541247000	chr5:177138660-177138661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543130610	chr5:177138695-177138696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533095812	chr5:177138703-177138704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551258517	chr5:177138716-177138717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149139557	chr5:177138777-177138778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531558045	chr5:177138782-177138783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190979934	chr5:177138815-177138816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143373159	chr5:177138830-177138831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180991912	chr5:177138831-177138832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Autism	20841430	CNVD
Developmental delay	21147756	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
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177137400-177142000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:177139400-177150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:177142200-177143000	Enhancers	NHEK	skin
4	chr5:177142400-177142800	Enhancers	HMEC	breast
5	chr5:177142400-177143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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