Variant report

Variant	esv2763507
Chromosome Location	chr5:146718961-146727485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:206)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:206 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:146723611-146723630	GM12878	blood:	n/a	n/a
2	CCNT2	chr5:146726952-146727152	K562	blood:	n/a	n/a
3	CEBPB	chr5:146726303-146726537	A549	lung:	n/a	n/a
4	CEBPB	chr5:146721077-146721126	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:146719000-146719150	GM12867	blood:	n/a	n/a
6	CTCF	chr5:146725913-146725962	NHEK	skin:	n/a	n/a
7	CTCF	chr5:146719000-146719150	BE2_C	brain:	n/a	n/a
8	CTCF	chr5:146725920-146726070	HCT-116	colon:	n/a	n/a
9	CTCF	chr5:146718960-146719110	HL-60	blood:	n/a	n/a
10	CTCF	chr5:146725881-146725973	GM19239	blood:	n/a	n/a
11	CTCF	chr5:146725900-146726050	RPTEC	kidney:	n/a	n/a
12	CTCF	chr5:146725800-146725950	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr5:146719060-146719210	BE2_C	brain:	n/a	n/a
14	CTCF	chr5:146719000-146719150	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr5:146725840-146725990	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr5:146718960-146719110	GM12875	blood:	n/a	n/a
17	CTCF	chr5:146725884-146725946	GM19238	blood:	n/a	n/a
18	CTCF	chr5:146718972-146719151	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr5:146719040-146719190	GM12878	blood:	n/a	n/a
20	CTCF	chr5:146725640-146725790	HFF	foreskin:	n/a	n/a
21	CTCF	chr5:146718960-146719110	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr5:146719020-146719170	GM12865	blood:	n/a	n/a
23	CTCF	chr5:146719040-146719190	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr5:146725880-146726030	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr5:146718980-146719159	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:146719000-146719150	GM12864	blood:	n/a	n/a
27	CTCF	chr5:146725863-146725974	HepG2	liver:	n/a	n/a
28	CTCF	chr5:146718960-146719110	GM12878	blood:	n/a	n/a
29	CTCF	chr5:146719040-146719190	GM12874	blood:	n/a	n/a
30	CTCF	chr5:146719000-146719150	A549	lung:	n/a	n/a
31	CTCF	chr5:146719020-146719170	GM12873	blood:	n/a	n/a
32	CTCF	chr5:146719011-146719124	NHEK	skin:	n/a	n/a
33	CTCF	chr5:146719000-146719150	HCFaa	heart:	n/a	n/a
34	CTCF	chr5:146718956-146719204	Gliobla	brain:	n/a	n/a
35	CTCF	chr5:146718980-146719130	RPTEC	kidney:	n/a	n/a
36	CTCF	chr5:146725860-146726010	HPF	lung:	n/a	n/a
37	CTCF	chr5:146719080-146719230	HVMF	connective:	n/a	n/a
38	CTCF	chr5:146718940-146719090	HepG2	liver:	n/a	n/a
39	CTCF	chr5:146718962-146719147	HepG2	liver:	n/a	n/a
40	CTCF	chr5:146725841-146725983	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr5:146725882-146725962	Fibrobl	skin:	n/a	n/a
42	CTCF	chr5:146725860-146726010	HCM	heart:	n/a	n/a
43	CTCF	chr5:146719040-146719190	HCT-116	colon:	n/a	n/a
44	CTCF	chr5:146718940-146719090	GM12871	blood:	n/a	n/a
45	CTCF	chr5:146719000-146719150	GM12873	blood:	n/a	n/a
46	CTCF	chr5:146725860-146726010	HMF	breast:	n/a	n/a
47	CTCF	chr5:146719060-146719210	GM12864	blood:	n/a	n/a
48	CTCF	chr5:146725820-146725970	AG09309	skin:	n/a	n/a
49	CTCF	chr5:146718940-146719090	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr5:146725840-146726022	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
STK32A	TF binding region

Extended variants
information (count: 303 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:303 , 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	rs1593175	chr5:146719010-146719011	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs186334329	chr5:146719027-146719028	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs145843617	chr5:146719034-146719035	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12520436	chr5:146719042-146719043	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541934657	chr5:146719115-146719116	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549275727	chr5:146719120-146719121	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575595376	chr5:146719145-146719146	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192006454	chr5:146719166-146719167	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564442391	chr5:146719263-146719264	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs533058040	chr5:146719264-146719265	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs184194983	chr5:146719268-146719269	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs560405123	chr5:146719285-146719286	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529060155	chr5:146719329-146719330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549103083	chr5:146719346-146719347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531718222	chr5:146719367-146719368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568857335	chr5:146719392-146719393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531376737	chr5:146719403-146719404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551073730	chr5:146719410-146719411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571149509	chr5:146719424-146719425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186676226	chr5:146719435-146719436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112811634	chr5:146719436-146719437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553215087	chr5:146719480-146719481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138739372	chr5:146719485-146719486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11954258	chr5:146719608-146719609	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs555485543	chr5:146719625-146719626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575635482	chr5:146719669-146719670	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs141142516	chr5:146719738-146719739	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs35130379	chr5:146719796-146719797	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs557891473	chr5:146719838-146719839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77770441	chr5:146719864-146719865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111783553	chr5:146719894-146719895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192081705	chr5:146719918-146719919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529150464	chr5:146719922-146719923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563123402	chr5:146719955-146719956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182502806	chr5:146719989-146719990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34362815	chr5:146720101-146720102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12521663	chr5:146720103-146720104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562636819	chr5:146720125-146720126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72831391	chr5:146720131-146720132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551427823	chr5:146720137-146720138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571168604	chr5:146720181-146720182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527250656	chr5:146720208-146720209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187048852	chr5:146720246-146720247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17106482	chr5:146720265-146720266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191104973	chr5:146720279-146720280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75053824	chr5:146720294-146720295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569408328	chr5:146720324-146720325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537972857	chr5:146720353-146720354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11955126	chr5:146720355-146720356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556057948	chr5:146720380-146720381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146707600-146725600	Weak transcription	Pancreas	Pancrea
2	chr5:146713800-146720800	Weak transcription	Fetal Kidney	kidney
3	chr5:146717800-146721800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:146718600-146719000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:146718600-146719200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:146718600-146719200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:146718800-146719200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:146719000-146719800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:146719800-146722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:146720800-146721600	Enhancers	Fetal Kidney	kidney
11	chr5:146721600-146722400	Weak transcription	Fetal Kidney	kidney
12	chr5:146721800-146726600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:146722200-146727000	Weak transcription	Aorta	Aorta
14	chr5:146722400-146722600	Enhancers	Fetal Kidney	kidney
15	chr5:146722400-146723000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:146723000-146727000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:146723000-146733400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:146724200-146725600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:146724800-146725400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:146725200-146725800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:146725400-146726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:146725600-146726000	ZNF genes & repeats	Pancreas	Pancrea
23	chr5:146725600-146726800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr5:146725800-146727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:146726000-146726400	Weak transcription	Pancreas	Pancrea
26	chr5:146726600-146726800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:146726800-146727200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:146726800-146729200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:146727000-146727400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:146727000-146727600	Strong transcription	Aorta	Aorta
31	chr5:146727000-146728000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:146727000-146728600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:146727200-146727400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:146727200-146727400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:146727200-146727600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:146727200-146728600	Enhancers	Osteobl	bone
37	chr5:146727400-146728200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:146727400-146728200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:146727400-146728800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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