Variant report

Variant	esv1835811
Chromosome Location	chr13:50370004-50374102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:50373060-50373210	GM12872	blood:	n/a	n/a
2	CTCF	chr13:50372920-50373070	HepG2	liver:	n/a	n/a
3	JUND	chr13:50370120-50370123	HepG2	liver:	n/a	n/a
4	NR3C1	chr13:50371946-50372243	A549	lung:	n/a	n/a
5	POLR2A	chr13:50372017-50372147	Gliobla	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50370537-50370587	AG09319	gingival:	n/a
2	chr13:50370537-50370587	PrEC	prostate:	n/a
3	chr13:50370537-50370587	Hepatocyte	liver:	n/a
4	chr13:50370537-50370587	GM12891	blood:	n/a
5	chr13:50370537-50370587	T-47D	breast:	n/a
6	chr13:50370537-50370587	BE2_C	brain:	n/a
7	chr13:50370537-50370587	IMR90	lung:	fetal
8	chr13:50370537-50370587	HCT-116	colon:	n/a
9	chr13:50370537-50370587	HRCEpiC	kidney:	n/a
10	chr13:50370537-50370587	PANC-1	pancreas:	n/a
11	chr13:50370537-50370587	ECC-1	luminal epithelium:	n/a
12	chr13:50370537-50370587	AG04450	lung:	fetal
13	chr13:50370537-50370587	HPAEpiC	pulmonary alveolar:	n/a
14	chr13:50370537-50370587	HRPEpiC	eye:	n/a
15	chr13:50370537-50370587	HNPCEpiC	eye:	n/a
16	chr13:50370537-50370587	NH-A	brain:	n/a
17	chr13:50370537-50370587	HUVEC	blood vessel:	n/a
18	chr13:50370537-50370587	HepG2	liver:	n/a
19	chr13:50370537-50370587	BJ	skin:	n/a
20	chr13:50370537-50370587	GM12892	blood:	n/a
21	chr13:50370537-50370587	HMEC	breast:	n/a
22	chr13:50370537-50370587	RPTEC	kidney:	n/a
23	chr13:50370537-50370587	SK-N-SH_RA	brain:	n/a
24	chr13:50370537-50370587	SK-N-SH	brain:	n/a
25	chr13:50370537-50370587	GM19239	blood:	n/a
26	chr13:50370537-50370587	AG09309	skin:	n/a
27	chr13:50370537-50370587	NB4	blood:	n/a
28	chr13:50370537-50370587	HIPEpiC	eye:	n/a
29	chr13:50370537-50370587	K562	blood:	n/a
30	chr13:50370537-50370587	AG04449	skin:	fetal
31	chr13:50370537-50370587	CMK	blood:	n/a
32	chr13:50370537-50370587	SAEC	small airway:	n/a
33	chr13:50370537-50370587	Jurkat	blood:	n/a
34	chr13:50370537-50370587	HAEpiC	amniotic membrane:	n/a
35	chr13:50370537-50370587	ProgFib	skin:	n/a
36	chr13:50370537-50370587	MCF-7	breast:	n/a
37	chr13:50370537-50370587	HRE	kidney:	n/a
38	chr13:50370537-50370587	HL-60	blood:	n/a
39	chr13:50370537-50370587	U87	brain:	n/a
40	chr13:50370537-50370587	SKMC	muscle:	n/a
41	chr13:50370537-50370587	MCF10A-Er-Src	breast:	n/a
42	chr13:50370537-50370587	Hela-S3	cervix:	n/a
43	chr13:50370537-50370587	H1-hESC	embryonic stem cell:	embryo
44	chr13:50370537-50370587	NHDF-neo	bronchial:	n/a
45	chr13:50370537-50370587	A549	lung:	n/a
46	chr13:50370537-50370587	PFSK-1	brain:	n/a
47	chr13:50370537-50370587	LNCaP	prostate:	n/a
48	chr13:50370537-50370587	SK-N-MC	brain:	n/a
49	chr13:50370537-50370587	HCM	heart:	n/a
50	chr13:50370537-50370587	NHBE	bronchial:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50363308..50365589-chr13:50370131..50372850,2	K562	blood:
2	chr13:50365715..50368789-chr13:50370446..50373134,3	K562	blood:
3	chr13:50365538..50368306-chr13:50370058..50373207,5	K562	blood:

No data

Variant related genes	Relation type
KPNA3	TF binding region
KPNA3	CpG island
ENSG00000102753	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9535343	chr13:50370004-50370005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533278443	chr13:50370022-50370023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181036300	chr13:50370045-50370046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531057537	chr13:50370048-50370049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185701340	chr13:50370065-50370066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551581386	chr13:50370131-50370132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1198315	chr13:50370168-50370169	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs528377920	chr13:50370197-50370198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1198316	chr13:50370205-50370206	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs114197940	chr13:50370254-50370255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202136280	chr13:50370321-50370322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200400244	chr13:50370329-50370330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529011410	chr13:50370356-50370357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550711505	chr13:50370371-50370372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568946690	chr13:50370382-50370383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199857694	chr13:50370391-50370392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531131760	chr13:50370395-50370396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190367540	chr13:50370400-50370401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550746931	chr13:50370451-50370452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147218178	chr13:50370473-50370474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148701849	chr13:50370538-50370539	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs142158466	chr13:50370544-50370545	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568455797	chr13:50370560-50370561	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368497857	chr13:50370613-50370614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535428287	chr13:50370625-50370626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557035986	chr13:50370639-50370640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575290916	chr13:50370653-50370654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545633603	chr13:50370682-50370683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557928298	chr13:50370702-50370703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567435544	chr13:50370714-50370715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181551707	chr13:50370720-50370721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186163461	chr13:50370747-50370748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1198317	chr13:50370760-50370761	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs544182078	chr13:50370943-50370944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367566015	chr13:50370980-50370981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562581132	chr13:50370990-50370991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140479681	chr13:50371004-50371005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533975883	chr13:50371007-50371008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553724359	chr13:50371008-50371009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144304471	chr13:50371053-50371054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146533285	chr13:50371065-50371066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528819032	chr13:50371131-50371132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191792030	chr13:50371149-50371150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568611180	chr13:50371152-50371153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573777779	chr13:50371153-50371154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542700330	chr13:50371167-50371168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535463573	chr13:50371215-50371216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536722143	chr13:50371225-50371226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141212404	chr13:50371237-50371238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539524179	chr13:50371286-50371287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50368000-50372600	Weak transcription	Spleen	Spleen
2	chr13:50368400-50378600	Weak transcription	HepG2	liver
3	chr13:50368600-50374400	Weak transcription	Placenta	Placenta
4	chr13:50369200-50370200	Weak transcription	K562	blood

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