Variant report

Variant	esv2757135
Chromosome Location	chr5:117785589-117864206
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	chr5:117808544-117808601	NR_104610
2	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
3	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
4	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
5	lnc-DTWD2-3	chr5:117803997-117804129	NR_104610
6	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
7	lnc-DTWD2-3	chr5:117804776-117804843	NONHSAT103396
8	lnc-DTWD2-3	chr5:117856867-117858541	NR_104610
9	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
10	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
11	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
12	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
13	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
14	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
15	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
16	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
17	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
18	lnc-DTWD2-3	chr5:117863970-117864208	NONHSAT103401
19	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
20	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
21	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
22	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
23	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
24	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
25	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
26	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
27	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
28	lnc-DTWD2-3	chr5:117803997-117804129	NONHSAT103396
29	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
30	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
31	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
32	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
33	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396
34	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965
35	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
36	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
37	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
38	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
39	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396

No data

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

Extended variants
information (count: 2995 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2995 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6595135	chr5:117785589-117785590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140017482	chr5:117785595-117785596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13184851	chr5:117785623-117785624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532103036	chr5:117785679-117785680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189269844	chr5:117785700-117785701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200015697	chr5:117785729-117785730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201012507	chr5:117785730-117785731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545836746	chr5:117785747-117785748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534309543	chr5:117785753-117785754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377427773	chr5:117785815-117785816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528260192	chr5:117785865-117785866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180953508	chr5:117785890-117785891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186215074	chr5:117785905-117785906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578141120	chr5:117785956-117785957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540297201	chr5:117785985-117785986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560274127	chr5:117786052-117786053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149847582	chr5:117786063-117786064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530159212	chr5:117786071-117786072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552683788	chr5:117786146-117786147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144810994	chr5:117786159-117786160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191065184	chr5:117786162-117786163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538768448	chr5:117786173-117786174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181364509	chr5:117786175-117786176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565957042	chr5:117786197-117786198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534868468	chr5:117786233-117786234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148560573	chr5:117786236-117786237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145509934	chr5:117786242-117786243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147592411	chr5:117786253-117786254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556685913	chr5:117786277-117786278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576731853	chr5:117786287-117786288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545594394	chr5:117786290-117786291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559460790	chr5:117786300-117786301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368510900	chr5:117786310-117786311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186782690	chr5:117786368-117786369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142032151	chr5:117786371-117786372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191288273	chr5:117786382-117786383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530829766	chr5:117786398-117786399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550813154	chr5:117786412-117786413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56407420	chr5:117786440-117786441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541534157	chr5:117786454-117786455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144228507	chr5:117786462-117786463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202062174	chr5:117786469-117786470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541231841	chr5:117786483-117786484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565817736	chr5:117786488-117786489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116514656	chr5:117786502-117786503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147766756	chr5:117786524-117786525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568264367	chr5:117786530-117786531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373641418	chr5:117786579-117786580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183092128	chr5:117786590-117786591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186674183	chr5:117786681-117786682	Enhancers Flanking Active TSS 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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117779000-117786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:117782200-117785600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
4	chr5:117785000-117786600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:117785000-117786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:117785000-117787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:117785200-117787000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:117785200-117787000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:117785200-117787000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:117785400-117786600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:117785400-117786600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:117785400-117787000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:117785400-117787200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:117785400-117787600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:117785600-117786400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:117785800-117786800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:117785800-117787000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:117786200-117787000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:117786200-117787000	Enhancers	Brain Germinal Matrix	brain
20	chr5:117786600-117787000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:117787000-117789200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:117787000-117789400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:117787000-117789400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:117789200-117789400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:117789200-117789600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:117789400-117789600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:117795000-117795800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:117795800-117796800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:117796400-117797600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:117796800-117797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:117797000-117797200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:117797000-117797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:117797000-117797600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:117797200-117797600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:117797200-117797600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:117797600-117800400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:117803200-117803800	Enhancers	Fetal Stomach	stomach
38	chr5:117814800-117815200	Enhancers	Left Ventricle	heart
39	chr5:117819200-117819600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:117819600-117822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:117820600-117821000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:117821000-117821800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:117821600-117823000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:117821800-117822600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:117821800-117823000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:117821800-117823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:117822000-117822600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:117822000-117822600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:117822000-117822600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:117822000-117822800	Enhancers	HUES48 Cell Line	embryonic stem cell

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