Variant report

Variant	nsv882780
Chromosome Location	chr5:119332670-119488924
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
2	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
3	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
4	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
5	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
6	chr5:119339357..119341886-chr5:119342360..119344963,3	MCF-7	breast:
7	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:
8	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
9	chr5:119339357..119341886-chr5:119342360..119344963,3	MCF-7	breast:
10	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:

(count:2 , 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	chr5:119375212-119375297	l_3004_chr5:119198853-119375297_testes

No data

Extended variants
information (count: 4352 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4352 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554690659	chr5:119337269-119337270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574603912	chr5:119337306-119337307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537002957	chr5:119337310-119337311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376684890	chr5:119337320-119337321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556690108	chr5:119337337-119337338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576809778	chr5:119337395-119337396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545371041	chr5:119337435-119337436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565264242	chr5:119337495-119337496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573018536	chr5:119337526-119337527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572290211	chr5:119337536-119337537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35732044	chr5:119337538-119337539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541240111	chr5:119337604-119337605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373721893	chr5:119337615-119337616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386404823	chr5:119337616-119337617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386404824	chr5:119337622-119337623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71750644	chr5:119337626-119337627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35284146	chr5:119337627-119337628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561017787	chr5:119337646-119337647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530141834	chr5:119337698-119337699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140334489	chr5:119337718-119337719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563523305	chr5:119337738-119337739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532586135	chr5:119337741-119337742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552481704	chr5:119337751-119337752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144222864	chr5:119337758-119337759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534777671	chr5:119337765-119337766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35662004	chr5:119337778-119337779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112147566	chr5:119340827-119340828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142673805	chr5:119340858-119340859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57903181	chr5:119340862-119340863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567066841	chr5:119340882-119340883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75285847	chr5:119340992-119340993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549441890	chr5:119340993-119340994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71586454	chr5:119340999-119341000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147352553	chr5:119341016-119341017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139091307	chr5:119341017-119341018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116339719	chr5:119341029-119341030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34856938	chr5:119341057-119341058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189643340	chr5:119341059-119341060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149915444	chr5:119341098-119341099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553675699	chr5:119341161-119341162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576057615	chr5:119341333-119341334	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs144777230	chr5:119341358-119341359	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs11742877	chr5:119341359-119341360	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371564391	chr5:119341365-119341366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs531319444	chr5:119341378-119341379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540908040	chr5:119341385-119341386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs376249891	chr5:119341389-119341390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs148567055	chr5:119341603-119341604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114717134	chr5:119341624-119341625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533963760	chr5:119341635-119341636	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:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119337200-119337800	Enhancers	HSMM	muscle
2	chr5:119340800-119341200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:119341600-119341800	Enhancers	Brain Germinal Matrix	brain
4	chr5:119341800-119342800	Weak transcription	Brain Germinal Matrix	brain
5	chr5:119342800-119343400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:119342800-119344600	Enhancers	Brain Germinal Matrix	brain
7	chr5:119342800-119346000	Enhancers	Hela-S3	cervix
8	chr5:119343000-119344400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:119343200-119343600	Enhancers	Fetal Brain Male	brain
10	chr5:119343200-119344000	Enhancers	Colon Smooth Muscle	Colon
11	chr5:119343200-119344400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:119344400-119345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:119344400-119348400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:119345000-119345200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:119345600-119346000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:119346000-119352400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:119348000-119348800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:119348400-119348800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:119350400-119350600	ZNF genes & repeats	HSMMtube	muscle
20	chr5:119350600-119352800	Weak transcription	HSMMtube	muscle
21	chr5:119351800-119352600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:119352400-119353200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:119352600-119353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:119352800-119353600	Enhancers	Hela-S3	cervix
25	chr5:119352800-119353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:119352800-119353800	Enhancers	HSMMtube	muscle
27	chr5:119353000-119353400	Enhancers	HMEC	breast
28	chr5:119353000-119353800	Enhancers	NHDF-Ad	bronchial
29	chr5:119353200-119357200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:119353400-119353800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:119358800-119359200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:119365800-119366800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:119366200-119366600	Enhancers	Fetal Stomach	stomach
34	chr5:119372400-119374000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:119372600-119373000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:119372600-119373800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:119373000-119373600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr5:119373600-119374000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr5:119373800-119375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:119374000-119375200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:119374000-119375400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:119375200-119376000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr5:119375200-119376000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:119375400-119376000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr5:119376000-119378600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:119376000-119379200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:119377400-119377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:119378600-119379600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:119379200-119380200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:119380200-119382600	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links