Variant report

Variant	nsv599531
Chromosome Location	chr5:117754697-117870746
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:39)
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:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
2	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
3	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965
4	lnc-DTWD2-3	chr5:117803997-117804129	NONHSAT103396
5	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
6	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
7	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
8	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
9	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
10	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396
11	lnc-DTWD2-3	chr5:117863970-117864208	NONHSAT103401
12	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
13	lnc-DTWD2-3	chr5:117804776-117804843	NONHSAT103396
14	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
15	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
16	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
17	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
18	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
19	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
20	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
21	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
22	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
23	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
24	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
25	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
26	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
27	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
28	lnc-DTWD2-3	chr5:117856867-117858541	NR_104610
29	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
30	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
31	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
32	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
33	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
34	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
35	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
36	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
37	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
38	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
39	lnc-DTWD2-3	chr5:117803997-117804129	NR_104610

No data

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

Extended variants
information (count: 3779 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3779 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377238190	chr5:117775404-117775405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370082944	chr5:117775422-117775423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573819236	chr5:117775427-117775428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6896427	chr5:117775438-117775439	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188712454	chr5:117775446-117775447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192601276	chr5:117775450-117775451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111993415	chr5:117775462-117775463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534542347	chr5:117775492-117775493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554732170	chr5:117775506-117775507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568301848	chr5:117775510-117775511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77832218	chr5:117775550-117775551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557255039	chr5:117775554-117775555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576522531	chr5:117775565-117775566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573212307	chr5:117775573-117775574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545394349	chr5:117775612-117775613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559124149	chr5:117775618-117775619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545286185	chr5:117775622-117775623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541305081	chr5:117775659-117775660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555626648	chr5:117775669-117775670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80266642	chr5:117775675-117775676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80196613	chr5:117775679-117775680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373388949	chr5:117775722-117775723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73240856	chr5:117775743-117775744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184809604	chr5:117775772-117775773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532000928	chr5:117775781-117775782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114625056	chr5:117775787-117775788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188689826	chr5:117775810-117775811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565469618	chr5:117775836-117775837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528177796	chr5:117775962-117775963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111486105	chr5:117775980-117775981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191253771	chr5:117775990-117775991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183794506	chr5:117776014-117776015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567361359	chr5:117776036-117776037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536813926	chr5:117776061-117776062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189147724	chr5:117776062-117776063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182432776	chr5:117776073-117776074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539070313	chr5:117776114-117776115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111366036	chr5:117776146-117776147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567627250	chr5:117776149-117776150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186604748	chr5:117776207-117776208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541517519	chr5:117776224-117776225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201840844	chr5:117776228-117776229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397697209	chr5:117776229-117776230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554724648	chr5:117776236-117776237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116791484	chr5:117776259-117776260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190149795	chr5:117776268-117776269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557989150	chr5:117776276-117776277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563664742	chr5:117776301-117776302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532649829	chr5:117776329-117776330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181857526	chr5:117776348-117776349	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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117775400-117779000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:117775600-117776000	Enhancers	NHDF-Ad	bronchial
3	chr5:117775800-117777200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:117777200-117777800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:117777800-117779400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:117778000-117778800	Enhancers	Brain Anterior Caudate	brain
7	chr5:117778600-117779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:117778800-117779000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:117778800-117779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:117779000-117779200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:117779000-117780800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:117779000-117786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:117779200-117779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:117779400-117779800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:117779400-117785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:117779800-117780600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:117780600-117781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:117780600-117781600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:117780600-117781800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:117780800-117781000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:117780800-117782200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:117780800-117782200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:117780800-117782400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:117780800-117782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:117781000-117781600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:117781000-117782000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:117781400-117785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:117781600-117781800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:117781600-117782000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:117781600-117782000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr5:117781800-117782000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:117781800-117782200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:117781800-117785200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:117782000-117782200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:117782000-117782600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:117782000-117783600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:117782000-117785000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:117782200-117785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:117782200-117785400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:117782200-117785600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:117782400-117785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:117782400-117785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:117782600-117785200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:117783000-117783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
46	chr5:117785000-117786600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:117785000-117786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:117785000-117787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:117785200-117787000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:117785200-117787000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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