Variant report

Variant	nsv1029875
Chromosome Location	chr5:117805637-117856575
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:1)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
2	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
3	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
4	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
5	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
6	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
7	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
8	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
9	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
10	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
11	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
12	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
13	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
14	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
15	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
16	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
17	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
18	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
19	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396

No data

Variant related genes	Relation type
CEBPB	miRNA target sites
CEBPD	miRNA target sites

Extended variants
information (count: 1721 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1721 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4073021	chr5:117805637-117805638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148526610	chr5:117805669-117805670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565780921	chr5:117805698-117805699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534698930	chr5:117805703-117805704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554498971	chr5:117805712-117805713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188859159	chr5:117805750-117805751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543870918	chr5:117805779-117805780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557298666	chr5:117805802-117805803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs118054175	chr5:117805893-117805894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546562241	chr5:117805896-117805897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566751485	chr5:117805898-117805899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142822645	chr5:117805899-117805900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117797397	chr5:117805901-117805902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117932937	chr5:117805911-117805912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561693654	chr5:117805935-117805936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370845545	chr5:117805967-117805968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180681688	chr5:117806026-117806027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550631381	chr5:117806072-117806073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77154216	chr5:117806099-117806100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185989120	chr5:117806109-117806110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546341103	chr5:117806111-117806112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566435495	chr5:117806112-117806113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535328658	chr5:117806121-117806122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151032051	chr5:117806123-117806124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535287769	chr5:117806137-117806138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568420895	chr5:117806249-117806250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537182430	chr5:117806251-117806252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140028149	chr5:117806271-117806272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565914655	chr5:117806322-117806323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577412501	chr5:117806332-117806333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143896003	chr5:117806334-117806335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553563378	chr5:117806375-117806376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534410426	chr5:117806405-117806406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553099396	chr5:117806420-117806421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573594601	chr5:117806449-117806450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557794694	chr5:117806462-117806463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561560190	chr5:117806475-117806476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117358738	chr5:117806478-117806479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146863707	chr5:117806559-117806560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532821986	chr5:117806590-117806591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376536232	chr5:117806617-117806618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546402433	chr5:117806667-117806668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577669046	chr5:117806669-117806670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529179059	chr5:117806703-117806704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78453689	chr5:117806704-117806705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568402514	chr5:117806705-117806706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140668059	chr5:117806721-117806722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550293911	chr5:117806755-117806756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145758214	chr5:117806828-117806829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12522602	chr5:117806845-117806846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
2	chr5:117814800-117815200	Enhancers	Left Ventricle	heart
3	chr5:117819200-117819600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:117819600-117822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:117820600-117821000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:117821000-117821800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:117821600-117823000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:117821800-117822600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:117821800-117823000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:117821800-117823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:117822000-117822600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:117822000-117822600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:117822000-117822600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:117822000-117822800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:117822000-117822800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:117822000-117822800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:117822000-117822800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:117822000-117823400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:117822600-117822800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:117822600-117823200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:117822800-117823200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:117823200-117823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:117823600-117828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:117823600-117834400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:117828000-117828400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:117838000-117839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:117838400-117838600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:117839600-117841200	ZNF genes & repeats	Left Ventricle	heart
29	chr5:117841200-117859200	Weak transcription	Left Ventricle	heart
30	chr5:117841400-117842600	Enhancers	Primary B cells from cord blood	blood
31	chr5:117841400-117843200	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:117842200-117842800	Enhancers	GM12878-XiMat	blood
33	chr5:117853000-117853200	Enhancers	Esophagus	oesophagus
34	chr5:117854800-117857800	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links