Variant report

Variant	nsv1023146
Chromosome Location	chr5:119301891-119623417
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:24)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
2	chr5:119522399..119524409-chr5:119526483..119528951,2	K562	blood:
3	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
4	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
5	chr5:119605903..119607846-chr5:119609534..119611047,2	K562	blood:
6	chr5:119611234..119613467-chr5:119620898..119622860,2	K562	blood:
7	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
8	chr14:81685904..81686476-chr5:119526721..119527705,2	NB4	blood:
9	chr5:119315165..119317093-chr5:119319183..119320996,2	K562	blood:
10	chr5:119522399..119524409-chr5:119526483..119528951,2	K562	blood:
11	chr5:119611234..119613467-chr5:119620898..119622860,2	K562	blood:
12	chr5:119315165..119317093-chr5:119319183..119320996,2	K562	blood:
13	chr5:119322458..119322958-chr8:143315608..143316280,2	MCF-7	breast:
14	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
15	chr5:119311184..119313460-chr5:119315140..119318048,2	K562	blood:
16	chr5:119311184..119313460-chr5:119315140..119318048,2	K562	blood:
17	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
18	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:
19	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
20	chr5:119605903..119607846-chr5:119609534..119611047,2	K562	blood:
21	chr5:119490690..119493114-chr7:5464157..5466979,2	MCF-7	breast:
22	chr5:119339357..119341886-chr5:119342360..119344963,3	MCF-7	breast:
23	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
24	chr5:119339357..119341886-chr5:119342360..119344963,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM170A-2	chr5:119375212-119375297	l_3004_chr5:119198853-119375297_testes
2	lnc-FAM170A-2	chr5:119341293-119341390	l_3004_chr5:119198853-119375297_testes
3	lnc-FAM170A-2	chr5:119328116-119328211	l_3004_chr5:119198853-119375297_testes
4	lnc-DTWD2-4	chr5:119581143-119581328	XLOC_004969

No data

Variant related genes	Relation type
ENSG00000182095	chromatin interactions
ENSG00000272953	chromatin interactions

Extended variants
information (count: 6913 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:6913 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148521799	chr5:119301913-119301914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558305820	chr5:119301916-119301917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571930830	chr5:119301920-119301921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540688638	chr5:119301923-119301924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554253297	chr5:119301963-119301964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190345558	chr5:119301978-119301979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4073709	chr5:119302004-119302005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6873107	chr5:119302040-119302041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531897160	chr5:119302065-119302066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9885058	chr5:119302073-119302074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565451740	chr5:119302077-119302078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527904449	chr5:119302081-119302082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547872880	chr5:119302091-119302092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13354856	chr5:119302130-119302131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182177209	chr5:119302135-119302136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549901228	chr5:119302181-119302182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13359366	chr5:119302215-119302216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185082969	chr5:119302253-119302254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563615774	chr5:119302277-119302278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552067904	chr5:119302297-119302298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116775850	chr5:119302316-119302317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534511970	chr5:119302321-119302322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554390341	chr5:119302323-119302324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574439104	chr5:119302338-119302339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188809807	chr5:119302381-119302382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556663172	chr5:119302391-119302392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140564040	chr5:119310802-119310803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562180497	chr5:119310803-119310804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150461577	chr5:119310835-119310836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76780253	chr5:119310842-119310843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570663907	chr5:119310890-119310891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533368125	chr5:119310936-119310937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547209099	chr5:119310959-119310960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377113447	chr5:119310991-119310992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58190624	chr5:119310992-119310993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186087395	chr5:119310994-119310995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397952747	chr5:119311008-119311009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200288980	chr5:119311009-119311010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376989252	chr5:119311041-119311042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554105157	chr5:119311046-119311047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555766987	chr5:119311064-119311065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369636506	chr5:119311066-119311067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149221553	chr5:119311093-119311094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190611146	chr5:119311122-119311123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75271380	chr5:119311134-119311135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572395271	chr5:119311158-119311159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540052134	chr5:119311183-119311184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532978554	chr5:119311189-119311190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182789273	chr5:119311208-119311209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188069107	chr5:119311227-119311228	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119301200-119302400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:119302000-119302400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:119310800-119311000	Enhancers	Aorta	Aorta
4	chr5:119310800-119311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:119310800-119311200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:119311000-119311400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:119311600-119312200	Weak transcription	Aorta	Aorta
8	chr5:119312400-119317000	Weak transcription	Aorta	Aorta
9	chr5:119317000-119317400	ZNF genes & repeats	Aorta	Aorta
10	chr5:119317600-119320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:119330400-119330800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:119330400-119330800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr5:119330800-119332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:119331400-119332200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:119331600-119332200	Enhancers	Psoas Muscle	Psoas
16	chr5:119332000-119332200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:119337200-119337800	Enhancers	HSMM	muscle
18	chr5:119340800-119341200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:119341600-119341800	Enhancers	Brain Germinal Matrix	brain
20	chr5:119341800-119342800	Weak transcription	Brain Germinal Matrix	brain
21	chr5:119342800-119343400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:119342800-119344600	Enhancers	Brain Germinal Matrix	brain
23	chr5:119342800-119346000	Enhancers	Hela-S3	cervix
24	chr5:119343000-119344400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:119343200-119343600	Enhancers	Fetal Brain Male	brain
26	chr5:119343200-119344000	Enhancers	Colon Smooth Muscle	Colon
27	chr5:119343200-119344400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:119344400-119345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:119344400-119348400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:119345000-119345200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:119345600-119346000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:119346000-119352400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:119348000-119348800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:119348400-119348800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:119350400-119350600	ZNF genes & repeats	HSMMtube	muscle
36	chr5:119350600-119352800	Weak transcription	HSMMtube	muscle
37	chr5:119351800-119352600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:119352400-119353200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:119352600-119353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:119352800-119353600	Enhancers	Hela-S3	cervix
41	chr5:119352800-119353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:119352800-119353800	Enhancers	HSMMtube	muscle
43	chr5:119353000-119353400	Enhancers	HMEC	breast
44	chr5:119353000-119353800	Enhancers	NHDF-Ad	bronchial
45	chr5:119353200-119357200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:119353400-119353800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:119358800-119359200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:119365800-119366800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:119366200-119366600	Enhancers	Fetal Stomach	stomach
50	chr5:119372400-119374000	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links