Variant report

Variant	nsv977240
Chromosome Location	chr13:52033195-52035408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr13:52034358-52034491	MCF10A-Er-Src	breast:	n/a	n/a
2	FAM48A	chr13:52033499-52033680	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:52034562-52034735	ProgFib	skin:	n/a	n/a
4	POLR2A	chr13:52034435-52034635	K562	blood:	n/a	n/a
5	POLR2A	chr13:52033806-52033899	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr13:52033505-52033718	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr13:52033240-52033582	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr13:52033371-52033485	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52034639-52034689	K562	blood:	n/a
2	chr13:52034639-52034689	K562	blood:	n/a
3	chr13:52034639-52034689	PrEC	prostate:	n/a
4	chr13:52034639-52034689	GM12878	blood:	n/a
5	chr13:52034639-52034689	BE2_C	brain:	n/a
6	chr13:52034639-52034689	HUVEC	blood vessel:	n/a
7	chr13:52034639-52034689	PANC-1	pancreas:	n/a
8	chr13:52034639-52034689	SKMC	muscle:	n/a
9	chr13:52034639-52034689	Jurkat	blood:	n/a
10	chr13:52034639-52034689	AG10803	skin:	n/a
11	chr13:52034639-52034689	SK-N-MC	brain:	n/a
12	chr13:52034639-52034689	H1-hESC	embryonic stem cell:	embryo
13	chr13:52034639-52034689	Hepatocyte	liver:	n/a
14	chr13:52034639-52034689	HCF	heart:	n/a
15	chr13:52034639-52034689	GM19239	blood:	n/a
16	chr13:52034639-52034689	HRPEpiC	eye:	n/a
17	chr13:52034639-52034689	ovcar-3	ovarian:	n/a
18	chr13:52034639-52034689	HNPCEpiC	eye:	n/a
19	chr13:52034639-52034689	AG04449	skin:	fetal
20	chr13:52034639-52034689	RPTEC	kidney:	n/a
21	chr13:52034639-52034689	Caco-2	colon:	n/a
22	chr13:52034639-52034689	GM12891	blood:	n/a
23	chr13:52034639-52034689	HMEC	breast:	n/a
24	chr13:52034639-52034689	AoSMC	blood vessel:	n/a
25	chr13:52034639-52034689	NT2-D1	testis:	n/a
26	chr13:52034639-52034689	AG09319	gingival:	n/a
27	chr13:52034639-52034689	HL-60	blood:	n/a
28	chr13:52034639-52034689	HCM	heart:	n/a
29	chr13:52034639-52034689	HEK293	kidney:	embryo
30	chr13:52034639-52034689	HEEpiC	esophagus:	n/a
31	chr13:52034639-52034689	BJ	skin:	n/a
32	chr13:52034639-52034689	HCT-116	colon:	n/a
33	chr13:52034639-52034689	HIPEpiC	eye:	n/a
34	chr13:52034639-52034689	MCF10A-Er-Src	breast:	n/a
35	chr13:52034639-52034689	Hela-S3	cervix:	n/a
36	chr13:52034639-52034689	NHDF-neo	bronchial:	n/a
37	chr13:52034639-52034689	SK-N-SH	brain:	n/a
38	chr13:52034639-52034689	IMR90	lung:	fetal
39	chr13:52034639-52034689	AG04450	lung:	fetal
40	chr13:52034639-52034689	GM06990	blood:	n/a
41	chr13:52034639-52034689	HPAEpiC	pulmonary alveolar:	n/a
42	chr13:52034639-52034689	HAEpiC	amniotic membrane:	n/a
43	chr13:52034639-52034689	U87	brain:	n/a
44	chr13:52034639-52034689	GM12892	blood:	n/a
45	chr13:52034639-52034689	ECC-1	luminal epithelium:	n/a
46	chr13:52034639-52034689	NH-A	brain:	n/a
47	chr13:52034639-52034689	HRE	kidney:	n/a
48	chr13:52034639-52034689	MCF-7	breast:	n/a
49	chr13:52034639-52034689	ProgFib	skin:	n/a
50	chr13:52034639-52034689	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52025794..52034237-chr13:52040132..52048046,20	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDFY2-2	chr13:52034808-52034832	NONHSAT033915

No data

Variant related genes	Relation type
RPS4XP16	TF binding region
INTS6	TF binding region
RPS4XP16	CpG island
INTS6	CpG island
ENSG00000243900	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535227788	chr13:52033198-52033199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs61958266	chr13:52033220-52033221	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569022204	chr13:52033252-52033253	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs538130566	chr13:52033261-52033262	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183430461	chr13:52033270-52033271	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs7991492	chr13:52033283-52033284	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377154449	chr13:52033342-52033343	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs534072105	chr13:52033357-52033358	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145898189	chr13:52033387-52033388	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs187053462	chr13:52033391-52033392	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs555082713	chr13:52033395-52033396	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574829103	chr13:52033411-52033412	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543462854	chr13:52033422-52033423	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563350160	chr13:52033445-52033446	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191904984	chr13:52033514-52033515	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184417875	chr13:52033515-52033516	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs576217016	chr13:52033516-52033517	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563970850	chr13:52033551-52033552	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532901036	chr13:52033559-52033560	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187620817	chr13:52033562-52033563	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559788705	chr13:52033608-52033609	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs193285251	chr13:52033693-52033694	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544920809	chr13:52033712-52033713	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs569013522	chr13:52033784-52033785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138646790	chr13:52033800-52033801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184220553	chr13:52033807-52033808	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35858319	chr13:52033900-52033901	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534133495	chr13:52033926-52033927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554327917	chr13:52033933-52033934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567725984	chr13:52033958-52033959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189632621	chr13:52033970-52033971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556508391	chr13:52034018-52034019	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375480977	chr13:52034019-52034020	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181234551	chr13:52034067-52034068	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545416458	chr13:52034075-52034076	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184004345	chr13:52034101-52034102	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577589772	chr13:52034151-52034152	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539809126	chr13:52034176-52034177	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559701998	chr13:52034180-52034181	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528986086	chr13:52034200-52034201	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542314046	chr13:52034212-52034213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78495228	chr13:52034247-52034248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9568603	chr13:52034271-52034272	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs561083032	chr13:52034301-52034302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551386559	chr13:52034352-52034353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571488483	chr13:52034355-52034356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527698977	chr13:52034420-52034421	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs188688834	chr13:52034455-52034456	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567641878	chr13:52034488-52034489	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs368927930	chr13:52034498-52034499	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
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
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
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
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52028600-52034000	Weak transcription	Aorta	Aorta
2	chr13:52028600-52036000	Weak transcription	HSMMtube	muscle
3	chr13:52029000-52033400	Weak transcription	NHEK	skin
4	chr13:52029000-52034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:52030400-52035200	Weak transcription	HSMM	muscle
6	chr13:52030600-52035800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:52030600-52036000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:52030600-52038800	Weak transcription	HepG2	liver
9	chr13:52030800-52033800	Weak transcription	Placenta	Placenta
10	chr13:52030800-52034400	Weak transcription	Adipose Nuclei	Adipose
11	chr13:52030800-52035400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr13:52030800-52035400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:52030800-52036000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:52030800-52036000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:52030800-52036200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:52030800-52036200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:52031000-52034000	Weak transcription	Left Ventricle	heart
18	chr13:52031000-52036000	Weak transcription	Esophagus	oesophagus
19	chr13:52031000-52039800	Weak transcription	A549	lung
20	chr13:52031000-52044800	Weak transcription	Liver	Liver
21	chr13:52031200-52033200	Weak transcription	Fetal Lung	lung
22	chr13:52031200-52035800	Weak transcription	Primary T cells from cord blood	blood
23	chr13:52031200-52036200	Weak transcription	Gastric	stomach
24	chr13:52031200-52041400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:52031400-52033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:52031400-52034800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:52031400-52035800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:52031400-52036200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:52031400-52036200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:52031400-52036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:52031400-52036800	Weak transcription	Fetal Stomach	stomach
32	chr13:52031400-52037000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:52031600-52033200	Weak transcription	Ovary	ovary
34	chr13:52031600-52034400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr13:52031600-52035800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr13:52031600-52036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:52031600-52041600	Weak transcription	Pancreas	Pancrea
38	chr13:52031800-52035800	Weak transcription	Fetal Muscle Leg	muscle
39	chr13:52031800-52045400	Weak transcription	Primary B cells from cord blood	blood
40	chr13:52032000-52035400	Weak transcription	Spleen	Spleen
41	chr13:52034000-52034200	Active TSS	Aorta	Aorta
42	chr13:52034000-52034800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:52034800-52036600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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