Variant report

Variant	esv3324247
Chromosome Location	chr5:1417052-1421450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:1421027-1421032	H1-hESC	embryonic stem cell:	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	MAFK	chr5:1420945-1420977	HepG2	liver:	n/a	n/a
5	MYC	chr5:1418757-1418806	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr5:1417987-1418055	H1-hESC	embryonic stem cell:	n/a	chr5:1418044-1418054
7	NR2F2	chr5:1416894-1417180	K562	blood:	n/a	n/a
8	NR3C1	chr5:1416584-1417068	A549	lung:	n/a	n/a
9	NR3C1	chr5:1416405-1417123	A549	lung:	n/a	n/a
10	NR3C1	chr5:1416414-1417224	A549	lung:	n/a	n/a
11	NR3C1	chr5:1416450-1417188	A549	lung:	n/a	n/a
12	RCOR1	chr5:1419240-1419271	K562	blood:	n/a	n/a
13	RCOR1	chr5:1419124-1419559	K562	blood:	n/a	n/a
14	ZNF263	chr5:1418759-1418904	HEK293-T-REx	kidney:	n/a	chr5:1418790-1418811

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1417706-1417756	MCF-7	breast:	n/a
2	chr5:1420305-1420355	SK-N-SH_RA	brain:	n/a
3	chr5:1417706-1417756	ECC-1	luminal epithelium:	n/a
4	chr5:1417003-1417053	HIPEpiC	eye:	n/a
5	chr5:1417003-1417053	NHDF-neo	bronchial:	n/a
6	chr5:1420305-1420355	GM12891	blood:	n/a
7	chr5:1420305-1420355	U87	brain:	n/a
8	chr5:1417003-1417053	HRE	kidney:	n/a
9	chr5:1420305-1420355	HCPEpiC	choroid plexus:	n/a
10	chr5:1417003-1417053	U87	brain:	n/a
11	chr5:1417706-1417756	NH-A	brain:	n/a
12	chr5:1420305-1420355	ProgFib	skin:	n/a
13	chr5:1420305-1420355	ECC-1	luminal epithelium:	n/a
14	chr5:1420305-1420355	HCF	heart:	n/a
15	chr5:1420305-1420355	HNPCEpiC	eye:	n/a
16	chr5:1420305-1420355	IMR90	lung:	fetal
17	chr5:1420305-1420355	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:1417003-1417053	CMK	blood:	n/a
19	chr5:1420305-1420355	K562	blood:	n/a
20	chr5:1417706-1417756	HIPEpiC	eye:	n/a
21	chr5:1417706-1417756	ProgFib	skin:	n/a
22	chr5:1417706-1417756	GM12878	blood:	n/a
23	chr5:1417003-1417053	HNPCEpiC	eye:	n/a
24	chr5:1417706-1417756	NHDF-neo	bronchial:	n/a
25	chr5:1417003-1417053	HEEpiC	esophagus:	n/a
26	chr5:1420305-1420355	Hepatocyte	liver:	n/a
27	chr5:1417706-1417756	HL-60	blood:	n/a
28	chr5:1420305-1420355	Caco-2	colon:	n/a
29	chr5:1417003-1417053	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:1417706-1417756	HNPCEpiC	eye:	n/a
31	chr5:1420305-1420355	H1-hESC	embryonic stem cell:	embryo
32	chr5:1420305-1420355	GM19239	blood:	n/a
33	chr5:1420305-1420355	NHBE	bronchial:	n/a
34	chr5:1417003-1417053	HUVEC	blood vessel:	n/a
35	chr5:1417706-1417756	HCM	heart:	n/a
36	chr5:1417003-1417053	LNCaP	prostate:	n/a
37	chr5:1420305-1420355	PrEC	prostate:	n/a
38	chr5:1420305-1420355	SK-N-SH	brain:	n/a
39	chr5:1417003-1417053	NH-A	brain:	n/a
40	chr5:1417706-1417756	GM19239	blood:	n/a
41	chr5:1417003-1417053	Hela-S3	cervix:	n/a
42	chr5:1417003-1417053	BJ	skin:	n/a
43	chr5:1417706-1417756	Hela-S3	cervix:	n/a
44	chr5:1420305-1420355	AG04450	lung:	fetal
45	chr5:1417706-1417756	BJ	skin:	n/a
46	chr5:1417003-1417053	HRCEpiC	kidney:	n/a
47	chr5:1417706-1417756	HCT-116	colon:	n/a
48	chr5:1420305-1420355	SKMC	muscle:	n/a
49	chr5:1417706-1417756	SKMC	muscle:	n/a
50	chr5:1420305-1420355	NB4	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1419115..1421419-chr5:1423950..1425563,2	K562	blood:
2	chr5:1418661..1420754-chr5:1423796..1425538,2	MCF-7	breast:
3	chr5:1419494..1421652-chr5:1421677..1423510,2	MCF-7	breast:
4	chr5:1402687..1404889-chr5:1416990..1419588,2	K562	blood:

No data

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

Extended variants
information (count: 230 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2652523	chr5:1417061-1417062	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563451980	chr5:1417066-1417067	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530747747	chr5:1417093-1417094	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536002239	chr5:1417095-1417096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs143574024	chr5:1417103-1417104	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528166157	chr5:1417109-1417110	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2859607	chr5:1417116-1417117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541425061	chr5:1417149-1417150	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs546389286	chr5:1417164-1417165	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112611577	chr5:1417186-1417187	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2735922	chr5:1417187-1417188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535129698	chr5:1417211-1417212	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs13161905	chr5:1417212-1417213	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs569552884	chr5:1417214-1417215	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150559644	chr5:1417217-1417218	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558378338	chr5:1417225-1417226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573516594	chr5:1417263-1417264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149312034	chr5:1417297-1417298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543956007	chr5:1417314-1417315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs37021	chr5:1417354-1417355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73030164	chr5:1417403-1417404	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562928505	chr5:1417409-1417410	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565225730	chr5:1417416-1417417	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs202124739	chr5:1417428-1417429	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577148903	chr5:1417429-1417430	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs10071624	chr5:1417455-1417456	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs184569642	chr5:1417483-1417484	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541026286	chr5:1417494-1417495	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546649357	chr5:1417530-1417531	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2735921	chr5:1417539-1417540	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561641291	chr5:1417569-1417570	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529015803	chr5:1417613-1417614	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559529820	chr5:1417640-1417641	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550283921	chr5:1417646-1417647	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2975293	chr5:1417652-1417653	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540126138	chr5:1417654-1417655	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139478671	chr5:1417655-1417656	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530167364	chr5:1417669-1417670	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567023849	chr5:1417692-1417693	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188319403	chr5:1417714-1417715	Weak transcription Bivalent Enhancer ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs76838441	chr5:1417754-1417755	Weak transcription Bivalent Enhancer ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs115400522	chr5:1417766-1417767	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144195981	chr5:1417790-1417791	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538384802	chr5:1417795-1417796	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556130013	chr5:1417806-1417807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577626752	chr5:1417845-1417846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192205554	chr5:1417865-1417866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146070301	chr5:1417888-1417889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572670767	chr5:1417917-1417918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540035090	chr5:1417944-1417945	Weak transcription ZNF genes & repeats	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1412600-1417200	Weak transcription	Spleen	Spleen
2	chr5:1415600-1418000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:1417200-1417400	Enhancers	Spleen	Spleen
4	chr5:1417400-1417800	Bivalent Enhancer	Right Ventricle	heart
5	chr5:1417400-1418200	ZNF genes & repeats	Spleen	Spleen
6	chr5:1418000-1418400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:1418400-1419800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:1418600-1419200	Active TSS	Fetal Lung	lung
9	chr5:1418800-1419200	Enhancers	Fetal Kidney	kidney
10	chr5:1419800-1420200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:1420000-1421400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr5:1420200-1420600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:1420200-1421400	Enhancers	Fetal Muscle Leg	muscle
14	chr5:1420400-1421000	Enhancers	Fetal Thymus	thymus
15	chr5:1420400-1421200	Enhancers	HSMMtube	muscle
16	chr5:1420400-1421400	Enhancers	Adipose Nuclei	Adipose
17	chr5:1420600-1420800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:1420600-1420800	Active TSS	Gastric	stomach
19	chr5:1420600-1421200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:1420600-1421200	Enhancers	Spleen	Spleen
21	chr5:1420600-1421400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:1420800-1421000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:1420800-1421000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr5:1420800-1421200	Bivalent Enhancer	Placenta	Placenta
25	chr5:1420800-1421200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:1420800-1421400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr5:1420800-1422000	Weak transcription	Gastric	stomach
28	chr5:1421200-1421800	Weak transcription	Spleen	Spleen

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