Variant report

Variant	nsv562767
Chromosome Location	chr13:95725866-95731190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr13:95725749-95725919	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFATC1	chr13:95728110-95728420	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:95726717-95729517	K562	blood:	n/a	n/a
4	POLR2A	chr13:95728269-95728558	A549	lung:	n/a	n/a
5	POLR2A	chr13:95728346-95728550	K562	blood:	n/a	n/a
6	POLR2A	chr13:95727797-95727897	K562	blood:	n/a	n/a
7	POLR2A	chr13:95730617-95731814	K562	blood:	n/a	n/a
8	POLR2A	chr13:95728324-95728342	K562	blood:	n/a	n/a
9	POLR2A	chr13:95728298-95728317	K562	blood:	n/a	n/a
10	POLR2A	chr13:95730250-95730312	A549	lung:	n/a	n/a
11	POLR2A	chr13:95730165-95730399	K562	blood:	n/a	n/a
12	WRNIP1	chr13:95726760-95726766	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95723326..95726989-chr13:95727890..95731022,3	K562	blood:
2	chr13:95723326..95726989-chr13:95727890..95731022,3	K562	blood:

No data

Variant related genes	Relation type
ABCC4	TF binding region
ENSG00000125257	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1189464	chr13:95725866-95725867	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536431397	chr13:95725881-95725882	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532245675	chr13:95725889-95725890	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546035893	chr13:95725890-95725891	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566755851	chr13:95725912-95725913	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192558933	chr13:95725969-95725970	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs80314122	chr13:95725982-95725983	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577733402	chr13:95726066-95726067	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147846237	chr13:95726069-95726070	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1189465	chr13:95726073-95726074	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79748515	chr13:95726082-95726083	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4148534	chr13:95726091-95726092	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543200902	chr13:95726137-95726138	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184596487	chr13:95726168-95726169	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573440733	chr13:95726180-95726181	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544692699	chr13:95726238-95726239	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568440074	chr13:95726320-95726321	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11842898	chr13:95726333-95726334	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530496489	chr13:95726357-95726358	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550729563	chr13:95726371-95726372	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116729778	chr13:95726394-95726395	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529894683	chr13:95726405-95726406	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546728933	chr13:95726417-95726418	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372822237	chr13:95726458-95726459	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376326528	chr13:95726498-95726499	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112810906	chr13:95726513-95726514	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370688144	chr13:95726516-95726517	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11568707	chr13:95726518-95726519	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138559279	chr13:95726525-95726526	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11568708	chr13:95726538-95726539	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1189466	chr13:95726541-95726542	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368710376	chr13:95726549-95726550	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375610264	chr13:95726559-95726560	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571337352	chr13:95726565-95726566	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138241964	chr13:95726592-95726593	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11568706	chr13:95726599-95726600	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373697823	chr13:95726604-95726605	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557076694	chr13:95726626-95726627	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4148533	chr13:95726660-95726661	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536453037	chr13:95726663-95726664	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553494916	chr13:95726702-95726703	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375968724	chr13:95726762-95726763	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144989511	chr13:95726854-95726855	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138796859	chr13:95726859-95726860	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1678406	chr13:95726863-95726864	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116035116	chr13:95726904-95726905	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1189467	chr13:95726956-95726957	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560968997	chr13:95726976-95726977	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529755689	chr13:95726994-95726995	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs546495294	chr13:95726999-95727000	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
2	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
3	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
5	chr13:95684400-95728200	Weak transcription	Adipose Nuclei	Adipose
6	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
8	chr13:95692800-95735800	Weak transcription	NHEK	skin
9	chr13:95696000-95726200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr13:95709200-95728000	Weak transcription	HSMMtube	muscle
12	chr13:95710200-95727400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
14	chr13:95713000-95727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:95716800-95727000	Weak transcription	Fetal Thymus	thymus
16	chr13:95717200-95726200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:95717600-95727600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:95718200-95728600	Strong transcription	GM12878-XiMat	blood
20	chr13:95718800-95728200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:95719400-95726400	Weak transcription	HSMM	muscle
22	chr13:95719400-95729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:95719600-95739800	Weak transcription	Pancreas	Pancrea
24	chr13:95720000-95735400	Weak transcription	HUVEC	blood vessel
25	chr13:95720000-95736200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:95720200-95729600	Weak transcription	Osteobl	bone
27	chr13:95720600-95735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:95720600-95736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:95720800-95734200	Weak transcription	Thymus	Thymus
30	chr13:95721600-95728600	Strong transcription	Primary T cells from cord blood	blood
31	chr13:95721800-95727600	Strong transcription	K562	blood
32	chr13:95722200-95727800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:95723000-95742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95723200-95733000	Weak transcription	Aorta	Aorta
35	chr13:95723800-95726400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:95723800-95726800	Weak transcription	Lung	lung
37	chr13:95723800-95727200	Weak transcription	Spleen	Spleen
38	chr13:95723800-95733000	Weak transcription	Fetal Intestine Small	intestine
39	chr13:95723800-95733000	Weak transcription	Fetal Stomach	stomach
40	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:95724000-95726400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:95724000-95726400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr13:95724000-95726800	Weak transcription	Gastric	stomach
44	chr13:95724000-95726800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr13:95724000-95728000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:95724000-95729000	Weak transcription	Fetal Kidney	kidney
47	chr13:95724000-95740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:95724200-95726200	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links