Variant report

Variant	nsv599538
Chromosome Location	chr5:117810106-117869665
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:2)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

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

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
2	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
3	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
4	lnc-DTWD2-3	chr5:117863970-117864208	NONHSAT103401
5	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
6	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
7	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
8	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
9	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
10	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
11	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
12	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
13	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
14	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965
15	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
16	lnc-DTWD2-3	chr5:117856867-117858541	NR_104610
17	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
18	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
19	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
20	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
21	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
22	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
23	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
24	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
25	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
26	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
27	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396

No data

Variant related genes	Relation type
CEBPZ	miRNA target sites
CEBPD	miRNA target sites
CEBPB	miRNA target sites
CELSR3	miRNA target sites

Extended variants
information (count: 2147 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2147 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9327074	chr5:117810106-117810107	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550457550	chr5:117810122-117810123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs192306676	chr5:117814810-117814811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150359558	chr5:117814811-117814812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552428760	chr5:117814817-117814818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566045860	chr5:117814856-117814857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376546450	chr5:117814865-117814866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555211689	chr5:117814914-117814915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117559352	chr5:117814915-117814916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537596863	chr5:117814945-117814946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531810528	chr5:117814962-117814963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557587225	chr5:117814985-117814986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577553356	chr5:117815011-117815012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183637513	chr5:117815016-117815017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116205694	chr5:117815032-117815033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189175772	chr5:117815034-117815035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181942184	chr5:117815056-117815057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185765496	chr5:117815057-117815058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76133330	chr5:117815067-117815068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189915315	chr5:117815126-117815127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563926436	chr5:117815139-117815140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146483828	chr5:117815147-117815148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571314208	chr5:117815156-117815157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560634982	chr5:117815160-117815161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6894304	chr5:117815168-117815169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10077519	chr5:117815175-117815176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs548296756	chr5:117815193-117815194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535321759	chr5:117819235-117819236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555332720	chr5:117819261-117819262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs545410661	chr5:117819272-117819273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568644489	chr5:117819292-117819293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10078184	chr5:117819305-117819306	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556977784	chr5:117819309-117819310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs576869347	chr5:117819310-117819311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147292832	chr5:117819321-117819322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552682476	chr5:117819336-117819337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs193267626	chr5:117819394-117819395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200454044	chr5:117819415-117819416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541697988	chr5:117819432-117819433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs561669575	chr5:117819433-117819434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs575058401	chr5:117819436-117819437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544083544	chr5:117819451-117819452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185059287	chr5:117819536-117819537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532495146	chr5:117819537-117819538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530405777	chr5:117819549-117819550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376815532	chr5:117819584-117819585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs190152132	chr5:117819588-117819589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149601202	chr5:117819590-117819591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115932473	chr5:117819651-117819652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114948263	chr5:117819652-117819653	Weak transcription	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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117814800-117815200	Enhancers	Left Ventricle	heart
2	chr5:117819200-117819600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:117819600-117822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:117820600-117821000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:117821000-117821800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:117821600-117823000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:117821800-117822600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:117821800-117823000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:117821800-117823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:117822000-117822600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:117822000-117822600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:117822000-117822600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:117822000-117822800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:117822000-117822800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:117822000-117822800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:117822000-117822800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:117822000-117823400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:117822600-117822800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:117822600-117823200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:117822800-117823200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:117823200-117823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:117823600-117828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:117823600-117834400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:117828000-117828400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:117838000-117839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:117838400-117838600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:117839600-117841200	ZNF genes & repeats	Left Ventricle	heart
28	chr5:117841200-117859200	Weak transcription	Left Ventricle	heart
29	chr5:117841400-117842600	Enhancers	Primary B cells from cord blood	blood
30	chr5:117841400-117843200	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:117842200-117842800	Enhancers	GM12878-XiMat	blood
32	chr5:117853000-117853200	Enhancers	Esophagus	oesophagus
33	chr5:117854800-117857800	Enhancers	Fetal Heart	heart
34	chr5:117856600-117857000	Enhancers	Right Ventricle	heart
35	chr5:117857800-117861200	Weak transcription	Fetal Heart	heart
36	chr5:117859200-117859400	ZNF genes & repeats	Left Ventricle	heart
37	chr5:117859400-117870200	Weak transcription	Left Ventricle	heart
38	chr5:117860600-117861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:117860800-117861800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:117861000-117861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:117861000-117861600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:117861000-117861600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:117861200-117861600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:117861200-117861600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:117861200-117861800	Enhancers	Fetal Heart	heart
46	chr5:117861200-117862000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:117861200-117863800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:117861400-117861800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:117861600-117866000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:117861600-117866400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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