Variant report

Variant	esv3340599
Chromosome Location	chr5:1414552-1419650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:488)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:1416591-1416857	GM12878	blood:	n/a	n/a
2	CTCF	chr5:1417162-1417185	LNCaP	prostate:	n/a	n/a
3	CUX1	chr5:1418482-1418682	K562	blood:	n/a	n/a
4	MYC	chr5:1417987-1418055	H1-hESC	embryonic stem cell:	n/a	chr5:1418044-1418054
5	MYC	chr5:1418757-1418806	HUVEC	blood vessel:	n/a	n/a
6	NR2F2	chr5:1416894-1417180	K562	blood:	n/a	n/a
7	NR3C1	chr5:1416450-1417188	A549	lung:	n/a	n/a
8	NR3C1	chr5:1416414-1417224	A549	lung:	n/a	n/a
9	NR3C1	chr5:1416622-1417023	A549	lung:	n/a	n/a
10	NR3C1	chr5:1416405-1417123	A549	lung:	n/a	n/a
11	NR3C1	chr5:1416584-1417068	A549	lung:	n/a	n/a
12	NR3C1	chr5:1416623-1417048	A549	lung:	n/a	n/a
13	POLR2A	chr5:1414746-1415200	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr5:1414795-1415176	H1-neurons	neurons:	n/a	n/a
15	RCOR1	chr5:1419240-1419271	K562	blood:	n/a	n/a
16	RCOR1	chr5:1419124-1419559	K562	blood:	n/a	n/a
17	RCOR1	chr5:1415902-1415954	K562	blood:	n/a	n/a
18	ZBTB7A	chr5:1414498-1414630	K562	blood:	n/a	n/a
19	ZNF263	chr5:1418759-1418904	HEK293-T-REx	kidney:	n/a	chr5:1418790-1418811

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1414806-1414856	BJ	skin:	n/a
2	chr5:1414806-1414856	HCT-116	colon:	n/a
3	chr5:1415533-1415583	T-47D	breast:	n/a
4	chr5:1417003-1417053	HCM	heart:	n/a
5	chr5:1414806-1414856	PrEC	prostate:	n/a
6	chr5:1414924-1414974	HEEpiC	esophagus:	n/a
7	chr5:1414806-1414856	MCF-7	breast:	n/a
8	chr5:1414806-1414856	AG04450	lung:	fetal
9	chr5:1416958-1417008	MCF10A-Er-Src	breast:	n/a
10	chr5:1417706-1417756	U87	brain:	n/a
11	chr5:1417003-1417053	U87	brain:	n/a
12	chr5:1416958-1417008	SKMC	muscle:	n/a
13	chr5:1414806-1414856	ECC-1	luminal epithelium:	n/a
14	chr5:1417003-1417053	Hela-S3	cervix:	n/a
15	chr5:1415533-1415583	Hela-S3	cervix:	n/a
16	chr5:1416958-1417008	CMK	blood:	n/a
17	chr5:1415533-1415583	BJ	skin:	n/a
18	chr5:1415533-1415583	K562	blood:	n/a
19	chr5:1415533-1415583	ovcar-3	ovarian:	n/a
20	chr5:1417706-1417756	AG04450	lung:	fetal
21	chr5:1414924-1414974	BE2_C	brain:	n/a
22	chr5:1416793-1416843	SKMC	muscle:	n/a
23	chr5:1416793-1416843	CMK	blood:	n/a
24	chr5:1414924-1414974	U87	brain:	n/a
25	chr5:1417003-1417053	HEK293	kidney:	embryo
26	chr5:1416793-1416843	BJ	skin:	n/a
27	chr5:1417003-1417053	HEEpiC	esophagus:	n/a
28	chr5:1414806-1414856	MCF10A-Er-Src	breast:	n/a
29	chr5:1416793-1416843	HUVEC	blood vessel:	n/a
30	chr5:1416958-1417008	SK-N-SH	brain:	n/a
31	chr5:1417003-1417053	ProgFib	skin:	n/a
32	chr5:1416958-1417008	PANC-1	pancreas:	n/a
33	chr5:1414924-1414974	GM19239	blood:	n/a
34	chr5:1415533-1415583	HL-60	blood:	n/a
35	chr5:1416873-1416923	PrEC	prostate:	n/a
36	chr5:1417706-1417756	NHBE	bronchial:	n/a
37	chr5:1415533-1415583	AG04449	skin:	fetal
38	chr5:1416958-1417008	GM12878	blood:	n/a
39	chr5:1414806-1414856	AG10803	skin:	n/a
40	chr5:1416873-1416923	GM12878	blood:	n/a
41	chr5:1416958-1417008	SK-N-MC	brain:	n/a
42	chr5:1417003-1417053	HRCEpiC	kidney:	n/a
43	chr5:1414924-1414974	NT2-D1	testis:	n/a
44	chr5:1415533-1415583	SK-N-SH_RA	brain:	n/a
45	chr5:1416873-1416923	HCT-116	colon:	n/a
46	chr5:1417706-1417756	SK-N-SH	brain:	n/a
47	chr5:1415533-1415583	ProgFib	skin:	n/a
48	chr5:1415533-1415583	HAEpiC	amniotic membrane:	n/a
49	chr5:1416958-1417008	BJ	skin:	n/a
50	chr5:1417706-1417756	CMK	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1418661..1420754-chr5:1423796..1425538,2	MCF-7	breast:
2	chr5:1402687..1404889-chr5:1416990..1419588,2	K562	blood:
3	chr5:1419494..1421652-chr5:1421677..1423510,2	MCF-7	breast:
4	chr5:1409153..1410840-chr5:1412800..1414912,2	K562	blood:
5	chr5:1408393..1412171-chr5:1413541..1415179,3	MCF-7	breast:
6	chr5:1419115..1421419-chr5:1423950..1425563,2	K562	blood:

No data

Variant related genes	Relation type
SLC6A3	TF binding region
SLC6A3	CpG island

Extended variants
information (count: 325 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:325 , 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	rs189367307	chr5:1414561-1414562	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138385991	chr5:1414568-1414569	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116103376	chr5:1414574-1414575	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112043156	chr5:1414575-1414576	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13186941	chr5:1414577-1414578	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181775	chr5:1414584-1414585	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549470632	chr5:1414590-1414591	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578023723	chr5:1414593-1414594	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183125	chr5:1414599-1414600	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185034	chr5:1414606-1414607	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58923592	chr5:1414612-1414613	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6895518	chr5:1414613-1414614	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs168682	chr5:1414615-1414616	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61367015	chr5:1414621-1414622	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181776	chr5:1414622-1414623	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573751703	chr5:1414637-1414638	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144067026	chr5:1414677-1414678	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562737012	chr5:1414686-1414687	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148689647	chr5:1414698-1414699	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551542799	chr5:1414705-1414706	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11564760	chr5:1414713-1414714	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540437624	chr5:1414720-1414721	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28363074	chr5:1414751-1414752	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs28363073	chr5:1414756-1414757	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189540522	chr5:1414757-1414758	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555650540	chr5:1414759-1414760	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375470100	chr5:1414760-1414761	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368381215	chr5:1414772-1414773	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2963253	chr5:1414773-1414774	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs113697108	chr5:1414775-1414776	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571858263	chr5:1414790-1414791	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145114326	chr5:1414807-1414808	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8179027	chr5:1414819-1414820	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148706810	chr5:1414822-1414823	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368954324	chr5:1414824-1414825	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201605046	chr5:1414825-1414826	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115282473	chr5:1414844-1414845	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146814731	chr5:1414852-1414853	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs267607068	chr5:1414859-1414860	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565107249	chr5:1414872-1414873	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114461544	chr5:1414873-1414874	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28363072	chr5:1414876-1414877	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142241083	chr5:1414882-1414883	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs267600474	chr5:1414886-1414887	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562538093	chr5:1414894-1414895	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577802449	chr5:1414895-1414896	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111362222	chr5:1414924-1414925	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202173303	chr5:1414925-1414926	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375720650	chr5:1414926-1414927	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369288905	chr5:1414927-1414928	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Lung squamous cell carcinoma	22363434	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Ovarian cancer	21720365	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Epilepsy	20502679	CNVD
Lung adenocarcinoma	17982442	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1412600-1417200	Weak transcription	Spleen	Spleen
2	chr5:1414200-1415200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:1414600-1415000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:1414800-1415000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:1414800-1415000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:1414800-1415200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr5:1414800-1415400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr5:1415000-1415400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:1415200-1415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:1415400-1415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:1415400-1415600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:1415600-1418000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:1417200-1417400	Enhancers	Spleen	Spleen
14	chr5:1417400-1417800	Bivalent Enhancer	Right Ventricle	heart
15	chr5:1417400-1418200	ZNF genes & repeats	Spleen	Spleen
16	chr5:1418000-1418400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:1418400-1419800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:1418600-1419200	Active TSS	Fetal Lung	lung
19	chr5:1418800-1419200	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links