Variant report

Variant	esv3507321
Chromosome Location	chr5:1968096-1972400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:1971461-1971801	A549	lung:	n/a	n/a
2	JUND	chr5:1968269-1968273	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:1971383-1971594	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1970121..1972284-chr5:1974533..1976693,2	K562	blood:
2	chr5:1967228..1969349-chr5:1970170..1972836,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-6	chr5:1968704-1969127	XLOC_004251
2	lnc-NDUFS6-6	chr5:1968208-1968343	XLOC_004251

No data

Variant related genes	Relation type
ENSG00000249731	TF binding region
ENSG00000248597	TF binding region
ENSG00000249731	chromatin interactions
ENSG00000248597	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16902204	chr5:1968140-1968141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375573279	chr5:1968151-1968152	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs554270222	chr5:1968182-1968183	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs148845013	chr5:1968193-1968194	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs186821505	chr5:1968220-1968221	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs139714282	chr5:1968224-1968225	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs11952205	chr5:1968238-1968239	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544532101	chr5:1968247-1968248	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs562740950	chr5:1968287-1968288	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
10	rs374147065	chr5:1968288-1968289	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
11	rs191197236	chr5:1968292-1968293	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
12	rs536297464	chr5:1968313-1968314	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
13	rs73732507	chr5:1968318-1968319	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551271757	chr5:1968388-1968389	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs13157072	chr5:1968390-1968391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs560233005	chr5:1968393-1968394	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs527391578	chr5:1968408-1968409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377710409	chr5:1968415-1968416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371077838	chr5:1968416-1968417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374127143	chr5:1968418-1968419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377603393	chr5:1968425-1968426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71595086	chr5:1968441-1968442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549014416	chr5:1968563-1968564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111535737	chr5:1971325-1971326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573465979	chr5:1971623-1971624	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566933709	chr5:1971625-1971626	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145103263	chr5:1971636-1971637	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114555384	chr5:1971678-1971679	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377752019	chr5:1971701-1971702	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147593247	chr5:1971702-1971703	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369872251	chr5:1971711-1971712	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185827276	chr5:1971785-1971786	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373325609	chr5:1971811-1971812	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554065180	chr5:1971822-1971823	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190254616	chr5:1971867-1971868	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536353080	chr5:1971870-1971871	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555064915	chr5:1971871-1971872	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375495783	chr5:1971873-1971874	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs576524548	chr5:1971913-1971914	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142129340	chr5:1971940-1971941	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs193156419	chr5:1971996-1971997	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs376909891	chr5:1971997-1971998	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs185006791	chr5:1972096-1972097	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545235684	chr5:1972129-1972130	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189032943	chr5:1972183-1972184	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560092129	chr5:1972198-1972199	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs370508289	chr5:1972240-1972241	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs548822472	chr5:1972261-1972262	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145966533	chr5:1972293-1972294	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138929209	chr5:1972294-1972295	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
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	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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1964000-1972800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:1965200-1968400	Enhancers	Fetal Muscle Leg	muscle
3	chr5:1966000-1968200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:1966200-1968200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:1967000-1973400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:1967000-1973800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:1967200-1968400	Enhancers	HMEC	breast
8	chr5:1967600-1968200	Enhancers	Fetal Stomach	stomach
9	chr5:1967800-1968200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:1967800-1968400	Bivalent Enhancer	Dnd41	blood
11	chr5:1968000-1968200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:1968000-1973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:1968200-1969800	Weak transcription	Fetal Stomach	stomach
14	chr5:1968200-1971600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:1968400-1971600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:1968400-1972600	Weak transcription	HMEC	breast
17	chr5:1971000-1972800	Weak transcription	Esophagus	oesophagus
18	chr5:1971600-1971800	Enhancers	Fetal Stomach	stomach
19	chr5:1971600-1972400	Enhancers	Fetal Muscle Leg	muscle
20	chr5:1971600-1973800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:1971800-1972400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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