Variant report

Variant	esv3354076
Chromosome Location	chr13:30063952-30068350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:30067915-30068347	MCF-7	breast:	n/a	n/a
2	CEBPB	chr13:30067957-30068304	MCF-7	breast:	n/a	n/a
3	CTCF	chr13:30065800-30066505	GM19239	blood:	n/a	n/a
4	CTCF	chr13:30065344-30065377	GM19239	blood:	n/a	n/a
5	CTCF	chr13:30066103-30066140	NHEK	skin:	n/a	n/a
6	CTCF	chr13:30065156-30065204	GM19239	blood:	n/a	n/a
7	CTCF	chr13:30065965-30066037	GM12891	blood:	n/a	n/a
8	CTCF	chr13:30066400-30066435	NHEK	skin:	n/a	n/a
9	GATA2	chr13:30064083-30064462	SH-SY5Y	brain:	n/a	n/a
10	MAFF	chr13:30064569-30064754	K562	blood:	n/a	n/a
11	MAFF	chr13:30064547-30064837	HepG2	liver:	n/a	n/a
12	MAFK	chr13:30064533-30064860	HepG2	liver:	n/a	n/a
13	MAFK	chr13:30064549-30064852	HepG2	liver:	n/a	n/a
14	MYC	chr13:30066211-30066233	MCF-7	breast:	n/a	n/a
15	MYC	chr13:30066406-30066551	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr13:30066121-30066145	MCF-7	breast:	n/a	n/a
17	MYC	chr13:30066193-30066195	MCF-7	breast:	n/a	n/a
18	MYC	chr13:30065231-30065312	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR2C2	chr13:30065666-30066549	GM12878	blood:	n/a	n/a
20	NRF1	chr13:30066122-30066137	GM12878	blood:	n/a	n/a
21	POLR2A	chr13:30066102-30066386	HepG2	liver:	n/a	n/a
22	POLR2A	chr13:30066462-30066630	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr13:30067158-30067254	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr13:30065852-30066104	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr13:30066307-30066432	ProgFib	skin:	n/a	n/a
26	SMC3	chr13:30066053-30066054	GM12878	blood:	n/a	n/a
27	SUZ12	chr13:30065697-30066567	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF2	chr13:30065597-30065600	HepG2	liver:	n/a	n/a
29	WRNIP1	chr13:30066107-30066126	GM12878	blood:	n/a	n/a
30	ZNF143	chr13:30064881-30064882	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30046214..30047103-chr13:30068051..30068759,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC7A1-3	chr13:30066175-30066205	NONHSAT032738
2	lnc-SLC7A1-3	chr13:30066054-30066164	NONHSAT032735
3	lnc-SLC7A1-3	chr13:30066289-30066334	NONHSAT032736
4	lnc-SLC7A1-3	chr13:30065731-30066288	NONHSAT032737
5	lnc-SLC7A1-3	chr13:30066059-30066123	NONHSAT032736
6	lnc-SLC7A1-3	chr13:30066369-30066564	NONHSAT032737
7	lnc-SLC7A1-3	chr13:30065123-30065843	NONHSAT032735
8	lnc-SLC7A1-3	chr13:30066352-30066639	NONHSAT032735
9	lnc-SLC7A1-3	chr13:30065123-30065848	NONHSAT032736
10	lnc-SLC7A1-3	chr13:30066244-30066271	NONHSAT032735
11	lnc-SLC7A1-3	chr13:30066369-30066639	NONHSAT032738
12	lnc-SLC7A1-1	chr13:30063762-30064242	ENSG00000179141.5

No data

Variant related genes	Relation type
MTUS2-AS1	TF binding region
MTUS2	TF binding region

Extended variants
information (count: 220 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141826408	chr13:30063953-30063954	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs79304329	chr13:30063995-30063996	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs9550471	chr13:30064014-30064015	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs562819496	chr13:30064048-30064049	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559636409	chr13:30064058-30064059	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs186679008	chr13:30064086-30064087	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs545054081	chr13:30064143-30064144	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs190351956	chr13:30064164-30064165	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs530301742	chr13:30064174-30064175	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs527249869	chr13:30064176-30064177	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs150483443	chr13:30064206-30064207	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs182970404	chr13:30064208-30064209	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs529502696	chr13:30064216-30064217	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs186083454	chr13:30064224-30064225	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs34014117	chr13:30064241-30064242	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs569616702	chr13:30064245-30064246	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538163892	chr13:30064300-30064301	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530559600	chr13:30064322-30064323	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs9550472	chr13:30064363-30064364	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs138350292	chr13:30064391-30064392	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534157817	chr13:30064463-30064464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533142769	chr13:30064497-30064498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574078663	chr13:30064560-30064561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35982778	chr13:30064575-30064576	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542874207	chr13:30064607-30064608	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs80314006	chr13:30064609-30064610	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576267888	chr13:30064669-30064670	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545341536	chr13:30064718-30064719	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs149614063	chr13:30064727-30064728	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190935152	chr13:30064774-30064775	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560451263	chr13:30064775-30064776	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs144352908	chr13:30064830-30064831	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560864502	chr13:30064837-30064838	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182543294	chr13:30064892-30064893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188058153	chr13:30064901-30064902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138576689	chr13:30064950-30064951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570403405	chr13:30064994-30064995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192640310	chr13:30065026-30065027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7324443	chr13:30065064-30065065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7324267	chr13:30065078-30065079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533985980	chr13:30065117-30065118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200106284	chr13:30065121-30065122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140336323	chr13:30065122-30065123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113140421	chr13:30065123-30065124	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs554116942	chr13:30065142-30065143	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs71090259	chr13:30065144-30065145	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs559272231	chr13:30065173-30065174	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs202071224	chr13:30065188-30065189	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs112464942	chr13:30065197-30065198	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs536761167	chr13:30065233-30065234	Weak transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Autism	19492091	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30055600-30070200	Weak transcription	Ovary	ovary
3	chr13:30057400-30070200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:30058200-30070200	Weak transcription	Right Ventricle	heart
5	chr13:30058800-30068200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:30058800-30070200	Weak transcription	Right Atrium	heart
7	chr13:30059200-30065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:30059400-30065800	Weak transcription	Dnd41	blood
9	chr13:30062000-30070200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:30062200-30066400	Weak transcription	Aorta	Aorta
11	chr13:30062400-30065200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:30062400-30066600	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:30062400-30068400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:30062600-30065200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:30062600-30066800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:30063000-30066000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr13:30063200-30064000	Strong transcription	Left Ventricle	heart
19	chr13:30063600-30064400	Strong transcription	Fetal Heart	heart
20	chr13:30063600-30070600	Weak transcription	Brain Angular Gyrus	brain
21	chr13:30064000-30070200	Weak transcription	Left Ventricle	heart
22	chr13:30064200-30065000	Enhancers	Fetal Brain Female	brain
23	chr13:30064200-30066200	Enhancers	Fetal Brain Male	brain
24	chr13:30064400-30065000	Enhancers	Fetal Stomach	stomach
25	chr13:30064400-30065600	Weak transcription	Fetal Heart	heart
26	chr13:30065000-30070200	Weak transcription	Fetal Stomach	stomach
27	chr13:30065000-30077200	Weak transcription	Fetal Brain Female	brain
28	chr13:30065200-30066000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:30065200-30066400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr13:30065200-30066600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:30065400-30065600	Enhancers	Gastric	stomach
32	chr13:30065600-30066000	Weak transcription	Gastric	stomach
33	chr13:30065600-30066600	Enhancers	Pancreas	Pancrea
34	chr13:30065600-30067800	Strong transcription	Fetal Heart	heart
35	chr13:30065800-30066000	Active TSS	Fetal Lung	lung
36	chr13:30065800-30066200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:30065800-30066200	ZNF genes & repeats	Fetal Kidney	kidney
38	chr13:30065800-30068000	Strong transcription	Dnd41	blood
39	chr13:30066000-30066200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:30066000-30066200	ZNF genes & repeats	Gastric	stomach
41	chr13:30066000-30066200	ZNF genes & repeats	Spleen	Spleen
42	chr13:30066000-30066400	Bivalent/Poised TSS	Fetal Lung	lung
43	chr13:30066000-30066600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr13:30066200-30066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:30066200-30066400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
46	chr13:30066200-30066400	Weak transcription	Spleen	Spleen
47	chr13:30066200-30070400	Weak transcription	Fetal Brain Male	brain
48	chr13:30066200-30070400	Weak transcription	Gastric	stomach
49	chr13:30066200-30071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:30066400-30068200	Strong transcription	Aorta	Aorta

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