Variant report

Variant	nsv562768
Chromosome Location	chr13:95849817-95858686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:95854451-95854755	K562	blood:	n/a	n/a
2	ATF1	chr13:95854370-95854781	K562	blood:	n/a	n/a
3	ATF3	chr13:95854346-95854772	K562	blood:	n/a	n/a
4	BHLHE40	chr13:95854411-95854782	K562	blood:	n/a	n/a
5	CCNT2	chr13:95854433-95854775	K562	blood:	n/a	n/a
6	CEBPB	chr13:95854354-95854736	K562	blood:	n/a	n/a
7	CEBPB	chr13:95854378-95854724	K562	blood:	n/a	n/a
8	CEBPB	chr13:95854431-95854653	K562	blood:	n/a	n/a
9	CEBPD	chr13:95854326-95854748	K562	blood:	n/a	n/a
10	CEBPD	chr13:95854355-95854737	K562	blood:	n/a	n/a
11	CREB1	chr13:95854272-95854809	K562	blood:	n/a	n/a
12	CTCF	chr13:95854759-95854798	GM12878	blood:	n/a	n/a
13	CTCF	chr13:95856720-95856870	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr13:95850776-95850834	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr13:95854674-95854870	K562	blood:	n/a	n/a
16	CTCF	chr13:95854772-95854855	NHEK	skin:	n/a	n/a
17	CTCF	chr13:95854660-95854810	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr13:95854787-95854814	GM19238	blood:	n/a	n/a
19	CTCF	chr13:95854764-95854836	GM19239	blood:	n/a	n/a
20	CTCF	chr13:95852732-95852752	Lung_OC	lung:	n/a	n/a
21	CTCF	chr13:95854785-95854821	GM12892	blood:	n/a	n/a
22	CTCF	chr13:95856700-95856850	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr13:95854720-95854870	BE2_C	brain:	n/a	n/a
24	CTCF	chr13:95854755-95854864	GM19240	blood:	n/a	n/a
25	CUX1	chr13:95854358-95854753	K562	blood:	n/a	n/a
26	E2F4	chr13:95853712-95853717	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr13:95854456-95854741	K562	blood:	n/a	n/a
28	ELK1	chr13:95853749-95853764	Hela-S3	cervix:	n/a	n/a
29	EP300	chr13:95854195-95854928	SK-N-SH	brain:	n/a	n/a
30	EP300	chr13:95854369-95854795	K562	blood:	n/a	n/a
31	FOS	chr13:95856729-95857029	HUVEC	blood vessel:	n/a	n/a
32	GATA1	chr13:95854260-95854910	PBDE	blood:	n/a	n/a
33	GATA1	chr13:95854462-95854748	PBDEFetal	blood:	n/a	n/a
34	GATA1	chr13:95854193-95854910	K562	blood:	n/a	n/a
35	GATA2	chr13:95854320-95854811	K562	blood:	n/a	n/a
36	GATA2	chr13:95856660-95856959	HUVEC	blood vessel:	n/a	n/a
37	GATA2	chr13:95854371-95854766	K562	blood:	n/a	n/a
38	GATA2	chr13:95854402-95854812	HUVEC	blood vessel:	n/a	n/a
39	IRF1	chr13:95856859-95856976	K562	blood:	n/a	n/a
40	IRF1	chr13:95854482-95854716	K562	blood:	n/a	n/a
41	JUN	chr13:95854394-95854768	K562	blood:	n/a	n/a
42	JUN	chr13:95854231-95855037	K562	blood:	n/a	n/a
43	JUN	chr13:95854354-95854786	K562	blood:	n/a	n/a
44	JUN	chr13:95854388-95854749	K562	blood:	n/a	n/a
45	JUN	chr13:95854396-95854748	K562	blood:	n/a	n/a
46	JUN	chr13:95854371-95854791	K562	blood:	n/a	n/a
47	JUND	chr13:95854315-95854836	K562	blood:	n/a	n/a
48	KAP1	chr13:95854479-95854758	U2OS	brain:	n/a	n/a
49	MAFK	chr13:95852641-95852689	HepG2	liver:	n/a	chr13:95852645-95852659
50	MAFK	chr13:95854436-95854749	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95858681..95860676-chr13:95871438..95873483,2	K562	blood:
2	chr13:95856315..95858779-chr13:95861515..95863648,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238463	TF binding region
ENSG00000238463	chromatin interactions

Extended variants
information (count: 320 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4148477	chr13:95849817-95849818	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183901959	chr13:95849818-95849819	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541559838	chr13:95849868-95849869	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80048167	chr13:95849880-95849881	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533207727	chr13:95849885-95849886	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373769894	chr13:95849908-95849909	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1751022	chr13:95849910-95849911	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138827553	chr13:95849911-95849912	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188232082	chr13:95849952-95849953	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575613543	chr13:95849968-95849969	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140497427	chr13:95849999-95850000	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370988386	chr13:95850046-95850047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534317146	chr13:95850072-95850073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115661588	chr13:95850095-95850096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571366904	chr13:95850153-95850154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549790390	chr13:95850194-95850195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117224332	chr13:95850214-95850215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143075351	chr13:95850294-95850295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372728314	chr13:95850296-95850297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147479735	chr13:95850373-95850374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113957840	chr13:95850469-95850470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138340759	chr13:95850504-95850505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552988659	chr13:95850512-95850513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572443580	chr13:95850531-95850532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575669806	chr13:95850601-95850602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541070888	chr13:95850618-95850619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112719101	chr13:95850631-95850632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1751023	chr13:95850673-95850674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1751024	chr13:95850674-95850675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563570636	chr13:95850742-95850743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111230226	chr13:95850799-95850800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181415433	chr13:95850800-95850801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9561807	chr13:95850837-95850838	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150868120	chr13:95850890-95850891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9524826	chr13:95850891-95850892	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577094142	chr13:95850913-95850914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537177292	chr13:95850996-95850997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143297288	chr13:95851011-95851012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567499132	chr13:95851022-95851023	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186540855	chr13:95851024-95851025	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553086061	chr13:95851041-95851042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544635785	chr13:95851062-95851063	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377562912	chr13:95851116-95851117	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190999169	chr13:95851149-95851150	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545801673	chr13:95851154-95851155	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs557765536	chr13:95851178-95851179	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146694992	chr13:95851285-95851286	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533504936	chr13:95851289-95851290	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543559079	chr13:95851293-95851294	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576129967	chr13:95851354-95851355	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
2	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
3	chr13:95808400-95854600	Weak transcription	NHEK	skin
4	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
5	chr13:95827400-95872400	Weak transcription	NH-A	brain
6	chr13:95829400-95856000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:95830400-95857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:95830400-95857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:95833600-95856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:95833800-95855400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:95833800-95856600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
14	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr13:95839200-95857000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:95839400-95857200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr13:95839400-95857800	Weak transcription	Primary T cells from cord blood	blood
18	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:95839600-95856800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:95839600-95857800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
22	chr13:95841800-95854200	Weak transcription	HUVEC	blood vessel
23	chr13:95842000-95855600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:95842000-95856000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr13:95842000-95857800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:95842000-95864800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
28	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
29	chr13:95844400-95864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:95844400-95865600	Weak transcription	Spleen	Spleen
31	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:95844600-95858400	Weak transcription	HSMM	muscle
33	chr13:95844600-95863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95845000-95857000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:95846200-95858400	Weak transcription	HepG2	liver
37	chr13:95846200-95859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
39	chr13:95846400-95851600	Weak transcription	Lung	lung
40	chr13:95846400-95856200	Weak transcription	Gastric	stomach
41	chr13:95846600-95851000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:95846600-95854000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:95846600-95855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:95846600-95855800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:95846600-95857600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:95846600-95857600	Weak transcription	Fetal Intestine Large	intestine
47	chr13:95846800-95851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:95846800-95851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:95846800-95854400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr13:95846800-95855000	Weak transcription	Fetal Intestine Small	intestine

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