Variant report

Variant	esv3468468
Chromosome Location	chr5:59999795-60005493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:59999797-60000151	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:60004676-60004744	HepG2	liver:	n/a	chr5:60004699-60004710
3	CEBPB	chr5:59999856-60000111	A549	lung:	n/a	n/a
4	CEBPB	chr5:59999872-60000091	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:59999783-60000117	MCF-7	breast:	n/a	n/a
6	CEBPB	chr5:59999774-60000259	A549	lung:	n/a	n/a
7	EP300	chr5:59999727-60000142	A549	lung:	n/a	n/a
8	FOS	chr5:59999941-60000067	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:59999940-60000067	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr5:59999830-60000198	A549	lung:	n/a	n/a
11	FOSL2	chr5:59999802-60000122	A549	lung:	n/a	n/a
12	FOXA1	chr5:59999775-60000021	T-47D	breast:	n/a	n/a
13	FOXA1	chr5:59999686-60000158	T-47D	breast:	n/a	n/a
14	FOXA2	chr5:59999835-60000048	HepG2	liver:	n/a	n/a
15	FOXA2	chr5:59999694-60000121	A549	lung:	n/a	n/a
16	GATA3	chr5:59999565-60000019	T-47D	breast:	n/a	n/a
17	GATA3	chr5:59999597-60000355	A549	lung:	n/a	n/a
18	JUN	chr5:59999927-60000110	HepG2	liver:	n/a	n/a
19	JUND	chr5:59999840-60000117	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:60002488-60002528	K562	blood:	n/a	n/a
21	POLR2A	chr5:60004667-60004883	K562	blood:	n/a	n/a
22	TEAD4	chr5:59999739-60000116	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59999842-59999892	K562	blood:	n/a
2	chr5:59999842-59999892	HEK293	kidney:	embryo
3	chr5:59999842-59999892	Jurkat	blood:	n/a
4	chr5:59999842-59999892	Hepatocyte	liver:	n/a
5	chr5:59999842-59999892	SK-N-SH_RA	brain:	n/a
6	chr5:59999842-59999892	MCF10A-Er-Src	breast:	n/a
7	chr5:59999842-59999892	LNCaP	prostate:	n/a
8	chr5:59999842-59999892	H1-hESC	embryonic stem cell:	embryo
9	chr5:59999842-59999892	SK-N-MC	brain:	n/a
10	chr5:59999842-59999892	GM12878	blood:	n/a
11	chr5:59999842-59999892	NT2-D1	testis:	n/a
12	chr5:59999842-59999892	AG04449	skin:	fetal
13	chr5:59999842-59999892	HCT-116	colon:	n/a
14	chr5:59999842-59999892	IMR90	lung:	fetal
15	chr5:59999842-59999892	HMEC	breast:	n/a
16	chr5:59999842-59999892	AG09309	skin:	n/a
17	chr5:59999842-59999892	SKMC	muscle:	n/a
18	chr5:59999842-59999892	HCPEpiC	choroid plexus:	n/a
19	chr5:59999842-59999892	Hela-S3	cervix:	n/a
20	chr5:59999842-59999892	HRCEpiC	kidney:	n/a
21	chr5:59999842-59999892	GM12892	blood:	n/a
22	chr5:59999842-59999892	HRE	kidney:	n/a
23	chr5:59999842-59999892	BJ	skin:	n/a
24	chr5:59999842-59999892	HEEpiC	esophagus:	n/a
25	chr5:59999842-59999892	BE2_C	brain:	n/a
26	chr5:59999842-59999892	GM12891	blood:	n/a
27	chr5:59999842-59999892	PANC-1	pancreas:	n/a
28	chr5:59999842-59999892	AoSMC	blood vessel:	n/a
29	chr5:59999842-59999892	NHBE	bronchial:	n/a
30	chr5:59999842-59999892	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:59999842-59999892	RPTEC	kidney:	n/a
32	chr5:59999842-59999892	GM06990	blood:	n/a
33	chr5:59999842-59999892	Caco-2	colon:	n/a
34	chr5:59999842-59999892	ProgFib	skin:	n/a
35	chr5:59999842-59999892	NHDF-neo	bronchial:	n/a
36	chr5:59999842-59999892	HAEpiC	amniotic membrane:	n/a
37	chr5:59999842-59999892	ovcar-3	ovarian:	n/a
38	chr5:59999842-59999892	ECC-1	luminal epithelium:	n/a
39	chr5:59999842-59999892	AG09319	gingival:	n/a
40	chr5:59999842-59999892	PFSK-1	brain:	n/a
41	chr5:59999842-59999892	A549	lung:	n/a
42	chr5:59999842-59999892	AG10803	skin:	n/a
43	chr5:59999842-59999892	HIPEpiC	eye:	n/a
44	chr5:59999842-59999892	SAEC	small airway:	n/a
45	chr5:59999842-59999892	NH-A	brain:	n/a
46	chr5:59999842-59999892	U87	brain:	n/a
47	chr5:59999842-59999892	GM19239	blood:	n/a
48	chr5:59999842-59999892	AG04450	lung:	fetal
49	chr5:59999842-59999892	SK-N-SH	brain:	n/a
50	chr5:59999842-59999892	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:59984165..59985932-chr5:59998391..60001093,2	K562	blood:
2	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
3	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
4	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:
5	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:
6	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
7	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
8	chr5:59994018..59997409-chr5:59998010..60001591,3	MCF-7	breast:
9	chr5:59994766..59997434-chr5:59998869..60000673,3	MCF-7	breast:
10	chr5:59994459..59997012-chr5:59999943..60002207,3	K562	blood:
11	chr5:59968561..59971245-chr5:59997935..60000093,2	MCF-7	breast:
12	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
13	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
14	chr5:59994459..59997087-chr5:60000577..60002875,2	K562	blood:

No data

Variant related genes	Relation type
DEPDC1B	TF binding region
DEPDC1B	CpG island
ENSG00000035499	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530161266	chr5:59999796-59999797	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562415286	chr5:59999818-59999819	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531482380	chr5:59999857-59999858	Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150809605	chr5:59999870-59999871	Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565080822	chr5:59999871-59999872	Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs527830942	chr5:59999901-59999902	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547825781	chr5:59999922-59999923	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558061247	chr5:60000037-60000038	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374063294	chr5:60000041-60000042	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs3029130	chr5:60000188-60000189	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs397835348	chr5:60000192-60000193	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573432426	chr5:60000285-60000286	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530084617	chr5:60000303-60000304	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1870014	chr5:60000470-60000471	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs755077	chr5:60000608-60000609	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs77049203	chr5:60000627-60000628	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539306454	chr5:60000635-60000636	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190749778	chr5:60000710-60000711	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368630654	chr5:60000826-60000827	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566217619	chr5:60000847-60000848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533659099	chr5:60000912-60000913	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529608944	chr5:60000917-60000918	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536766922	chr5:60000965-60000966	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573325390	chr5:60000976-60000977	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535873054	chr5:60001024-60001025	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555725496	chr5:60001030-60001031	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375520038	chr5:60001043-60001044	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs897673	chr5:60001052-60001053	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183447889	chr5:60001116-60001117	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4370226	chr5:60001122-60001123	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs572166359	chr5:60001146-60001147	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541185043	chr5:60001218-60001219	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77535947	chr5:60001271-60001272	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs139205958	chr5:60001273-60001274	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550236538	chr5:60001282-60001283	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563667962	chr5:60001357-60001358	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145204198	chr5:60001385-60001386	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534460782	chr5:60001387-60001388	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552796084	chr5:60001447-60001448	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373954292	chr5:60001553-60001554	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187682520	chr5:60001567-60001568	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10939862	chr5:60001644-60001645	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs150493260	chr5:60001708-60001709	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147618352	chr5:60001790-60001791	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs72644101	chr5:60001804-60001805	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566817997	chr5:60001843-60001844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35108782	chr5:60001844-60001845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75114046	chr5:60001899-60001900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs58971637	chr5:60001936-60001937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144334238	chr5:60002008-60002009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59996800-60001800	Enhancers	Placenta	Placenta
2	chr5:59999600-60000400	Enhancers	Stomach Mucosa	stomach
3	chr5:59999600-60000600	Enhancers	A549	lung
4	chr5:60001800-60002600	Weak transcription	Placenta	Placenta
5	chr5:60002600-60003400	Enhancers	Placenta	Placenta
6	chr5:60003400-60005800	Weak transcription	Placenta	Placenta

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