Variant report

Variant	nsv599568
Chromosome Location	chr5:119199265-119414589
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119315165..119317093-chr5:119319183..119320996,2	K562	blood:
2	chr5:119278619..119279545-chr5:119793318..119794660,3	MCF-7	breast:
3	chr2:185990403..185991343-chr5:119236365..119236898,2	MCF-7	breast:
4	chr5:119322458..119322958-chr8:143315608..143316280,2	MCF-7	breast:
5	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
6	chr5:119311184..119313460-chr5:119315140..119318048,2	K562	blood:
7	chr5:119311184..119313460-chr5:119315140..119318048,2	K562	blood:
8	chr5:119315165..119317093-chr5:119319183..119320996,2	K562	blood:
9	chr5:119278671..119279490-chr5:119662851..119663369,2	MCF-7	breast:
10	chr5:119339357..119341886-chr5:119342360..119344963,3	MCF-7	breast:
11	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
12	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
13	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
14	chr5:119339357..119341886-chr5:119342360..119344963,3	MCF-7	breast:
15	chr18:65208157..65208941-chr5:119229771..119230382,2	MCF-7	breast:
16	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM170A-2	chr5:119341293-119341390	l_3004_chr5:119198853-119375297_testes
2	lnc-FAM170A-2	chr5:119328116-119328211	l_3004_chr5:119198853-119375297_testes
3	lnc-FAM170A-2	chr5:119375212-119375297	l_3004_chr5:119198853-119375297_testes

No data

Extended variants
information (count: 3592 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3592 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4260694	chr5:119200811-119200812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536914191	chr5:119200859-119200860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374002807	chr5:119200863-119200864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191105148	chr5:119200886-119200887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545522146	chr5:119200912-119200913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60281990	chr5:119200946-119200947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567220319	chr5:119200952-119200953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529500748	chr5:119200980-119200981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73248148	chr5:119200981-119200982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185717062	chr5:119200988-119200989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540848432	chr5:119200995-119200996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537791705	chr5:119200999-119201000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78067050	chr5:119201000-119201001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146171621	chr5:119205810-119205811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571264496	chr5:119205904-119205905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111704961	chr5:119205922-119205923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527302295	chr5:119205938-119205939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368662047	chr5:119205966-119205967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533587288	chr5:119206028-119206029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567034723	chr5:119206030-119206031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116563458	chr5:119206031-119206032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12332465	chr5:119206039-119206040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572191787	chr5:119206066-119206067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202191618	chr5:119206092-119206093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200197698	chr5:119206093-119206094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569346085	chr5:119206114-119206115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542741925	chr5:119206120-119206121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538568615	chr5:119206123-119206124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536514316	chr5:119206139-119206140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561070084	chr5:119206165-119206166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558175540	chr5:119206166-119206167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578238024	chr5:119206235-119206236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117977519	chr5:119206291-119206292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367932073	chr5:119206293-119206294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574220041	chr5:119206317-119206318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372138434	chr5:119206347-119206348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375527796	chr5:119206375-119206376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139095013	chr5:119206397-119206398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369652567	chr5:119206404-119206405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13157317	chr5:119206408-119206409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545150138	chr5:119206416-119206417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186091360	chr5:119206437-119206438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115366756	chr5:119206456-119206457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555952472	chr5:119206467-119206468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369896062	chr5:119206480-119206481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190909457	chr5:119206613-119206614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73250213	chr5:119206641-119206642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549600266	chr5:119206692-119206693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569692191	chr5:119206722-119206723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183990528	chr5:119206746-119206747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119200800-119201000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:119205800-119206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:119206000-119209400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:119209400-119209800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:119211800-119213200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:119213200-119215400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:119214200-119214800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:119214200-119215000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:119214400-119214800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:119214400-119215000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:119214400-119215200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:119214600-119215000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:119215400-119215600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:119228000-119228200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:119228200-119228800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:119228600-119229000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:119229000-119233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:119229600-119229800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:119232200-119232400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:119232200-119233200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:119232400-119232800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:119232400-119233600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr5:119232800-119233800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:119233000-119233800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:119233800-119234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:119249000-119249400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:119249400-119249800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:119249400-119250000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:119249600-119250000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:119264600-119264800	Active TSS	Gastric	stomach
31	chr5:119264800-119265000	Enhancers	Aorta	Aorta
32	chr5:119264800-119266400	Weak transcription	Gastric	stomach
33	chr5:119283800-119284200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:119284200-119285200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:119284400-119285200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:119284800-119285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:119284800-119285800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:119284800-119286000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:119284800-119286400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:119285000-119285400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:119285000-119285400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:119285200-119285600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:119285200-119285600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:119285200-119286800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:119285400-119285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:119285400-119285600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr5:119285400-119285600	Active TSS	Aorta	Aorta
48	chr5:119285400-119285800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:119285400-119285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:119285400-119285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links