Variant report

Variant	nsv599537
Chromosome Location	chr5:117806845-117856289
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	chr5:117846583-117846759	NONHSAT103396
3	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
4	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
5	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
6	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
7	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
8	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
9	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
10	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
11	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
12	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
13	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
14	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
15	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
16	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
17	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
18	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
19	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610

No data

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

Extended variants
information (count: 1661 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1661 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12522602	chr5:117806845-117806846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377349183	chr5:117806848-117806849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553627639	chr5:117806849-117806850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573456393	chr5:117806853-117806854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34089044	chr5:117806870-117806871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144960385	chr5:117806899-117806900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556017755	chr5:117806901-117806902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149054274	chr5:117806924-117806925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544203508	chr5:117806934-117806935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545571993	chr5:117806964-117806965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577338291	chr5:117806965-117806966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187593149	chr5:117807773-117807774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs562558618	chr5:117807774-117807775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs147011325	chr5:117807780-117807781	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs368553535	chr5:117807782-117807783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs113899176	chr5:117807796-117807797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs371453206	chr5:117807833-117807834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs146397559	chr5:117808557-117808558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs78986347	chr5:117808573-117808574	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs558748750	chr5:117808586-117808587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547732262	chr5:117809232-117809233	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs561430040	chr5:117809235-117809236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs182652916	chr5:117809239-117809240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs76821488	chr5:117809241-117809242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs78288381	chr5:117809242-117809243	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs532277599	chr5:117809265-117809266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs573969186	chr5:117809296-117809297	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs552288990	chr5:117809306-117809307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs565929195	chr5:117809355-117809356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs534812715	chr5:117809389-117809390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs145488788	chr5:117809441-117809442	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs568279343	chr5:117809442-117809443	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs533066974	chr5:117809451-117809452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs537324718	chr5:117809489-117809490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs564039457	chr5:117809498-117809499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs76804811	chr5:117809512-117809513	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs370308744	chr5:117809526-117809527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576014507	chr5:117809528-117809529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs141135988	chr5:117809536-117809537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs146922111	chr5:117809561-117809562	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs572163034	chr5:117809575-117809576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs4473795	chr5:117809576-117809577	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201440737	chr5:117809585-117809586	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs201702833	chr5:117809587-117809588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200844220	chr5:117809588-117809589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537313897	chr5:117809589-117809590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs200125199	chr5:117809590-117809591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs60100438	chr5:117809595-117809596	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78716425	chr5:117809601-117809602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs552154492	chr5:117809612-117809613	Inactive region	lncRNA	n/a	Overlapped CNVs	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

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