Variant report

Variant	esv2487197
Chromosome Location	chr4:20527710-20529201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:20528506-20528556	PANC-1	pancreas:	n/a
2	chr4:20528506-20528556	HCT-116	colon:	n/a
3	chr4:20528506-20528556	MCF10A-Er-Src	breast:	n/a
4	chr4:20528506-20528556	Jurkat	blood:	n/a
5	chr4:20528506-20528556	K562	blood:	n/a
6	chr4:20528506-20528556	HNPCEpiC	eye:	n/a
7	chr4:20528506-20528556	SAEC	small airway:	n/a
8	chr4:20528506-20528556	RPTEC	kidney:	n/a
9	chr4:20528506-20528556	HepG2	liver:	n/a
10	chr4:20528506-20528556	NB4	blood:	n/a
11	chr4:20528506-20528556	GM12891	blood:	n/a
12	chr4:20528506-20528556	Caco-2	colon:	n/a
13	chr4:20528506-20528556	ProgFib	skin:	n/a
14	chr4:20528506-20528556	Hela-S3	cervix:	n/a
15	chr4:20528506-20528556	HUVEC	blood vessel:	n/a
16	chr4:20528506-20528556	BE2_C	brain:	n/a
17	chr4:20528506-20528556	HRPEpiC	eye:	n/a
18	chr4:20528506-20528556	HRE	kidney:	n/a
19	chr4:20528506-20528556	HL-60	blood:	n/a
20	chr4:20528506-20528556	PrEC	prostate:	n/a
21	chr4:20528506-20528556	AG09309	skin:	n/a
22	chr4:20528506-20528556	AG04450	lung:	fetal
23	chr4:20528506-20528556	GM19239	blood:	n/a
24	chr4:20528506-20528556	NH-A	brain:	n/a
25	chr4:20528506-20528556	PFSK-1	brain:	n/a
26	chr4:20528506-20528556	HRCEpiC	kidney:	n/a
27	chr4:20528506-20528556	ECC-1	luminal epithelium:	n/a
28	chr4:20528506-20528556	HCF	heart:	n/a
29	chr4:20528506-20528556	HEEpiC	esophagus:	n/a
30	chr4:20528506-20528556	HAEpiC	amniotic membrane:	n/a
31	chr4:20528506-20528556	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:20528506-20528556	NHDF-neo	bronchial:	n/a
33	chr4:20528506-20528556	AG04449	skin:	fetal
34	chr4:20528506-20528556	HCM	heart:	n/a
35	chr4:20528506-20528556	SK-N-MC	brain:	n/a
36	chr4:20528506-20528556	AG10803	skin:	n/a
37	chr4:20528506-20528556	SKMC	muscle:	n/a
38	chr4:20528506-20528556	HCPEpiC	choroid plexus:	n/a
39	chr4:20528506-20528556	NHBE	bronchial:	n/a
40	chr4:20528506-20528556	T-47D	breast:	n/a
41	chr4:20528506-20528556	A549	lung:	n/a
42	chr4:20528506-20528556	MCF-7	breast:	n/a
43	chr4:20528506-20528556	CMK	blood:	n/a
44	chr4:20528506-20528556	GM12878	blood:	n/a
45	chr4:20528506-20528556	AG09319	gingival:	n/a
46	chr4:20528506-20528556	LNCaP	prostate:	n/a
47	chr4:20528506-20528556	Hepatocyte	liver:	n/a
48	chr4:20528506-20528556	IMR90	lung:	fetal
49	chr4:20528506-20528556	GM12892	blood:	n/a
50	chr4:20528506-20528556	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20523924..20528814-chr4:20529979..20533710,4	K562	blood:

No data

Variant related genes	Relation type
MIR218-1	CpG island

Extended variants
information (count: 67 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559667513	chr4:20527711-20527712	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532800982	chr4:20527753-20527754	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551084849	chr4:20527755-20527756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190531566	chr4:20527758-20527759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150868816	chr4:20527774-20527775	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530218917	chr4:20527828-20527829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181650587	chr4:20527838-20527839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7690660	chr4:20527864-20527865	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75821826	chr4:20527876-20527877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546897851	chr4:20527995-20527996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139717341	chr4:20528025-20528026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538408456	chr4:20528032-20528033	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75035068	chr4:20528049-20528050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138286428	chr4:20528069-20528070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574967137	chr4:20528107-20528108	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146149620	chr4:20528151-20528152	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562275598	chr4:20528195-20528196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140203517	chr4:20528220-20528221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372055670	chr4:20528224-20528225	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3756148	chr4:20528236-20528237	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs367725673	chr4:20528256-20528257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540567877	chr4:20528273-20528274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149865464	chr4:20528277-20528278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187016776	chr4:20528281-20528282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77901041	chr4:20528308-20528309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563096728	chr4:20528309-20528310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551403168	chr4:20528338-20528339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530180870	chr4:20528438-20528439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375030343	chr4:20528466-20528467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577691841	chr4:20528563-20528564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367985026	chr4:20528581-20528582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571146599	chr4:20528596-20528597	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372268333	chr4:20528633-20528634	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149049408	chr4:20528658-20528659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77421140	chr4:20528674-20528675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16869714	chr4:20528687-20528688	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571165383	chr4:20528696-20528697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142124399	chr4:20528714-20528715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542188877	chr4:20528763-20528764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550329415	chr4:20528775-20528776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73108677	chr4:20528834-20528835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535945886	chr4:20528845-20528846	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554695775	chr4:20528859-20528860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376495220	chr4:20528876-20528877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370653575	chr4:20528886-20528887	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74514429	chr4:20528929-20528930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556379189	chr4:20528950-20528951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572741136	chr4:20528951-20528952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147805227	chr4:20528970-20528971	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141317613	chr4:20528971-20528972	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
3	chr4:20490800-20529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:20492000-20534800	Weak transcription	Fetal Kidney	kidney
5	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
6	chr4:20508800-20534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:20513200-20534600	Weak transcription	Fetal Brain Male	brain
9	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
10	chr4:20520600-20539600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:20521200-20535400	Weak transcription	Spleen	Spleen
12	chr4:20521400-20529600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:20523000-20529800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:20523000-20530400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:20523000-20532600	Weak transcription	NHLF	lung
16	chr4:20523200-20530400	Weak transcription	Osteobl	bone
17	chr4:20523200-20534000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:20523200-20535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:20523400-20529600	Weak transcription	HSMM	muscle
20	chr4:20523400-20529600	Strong transcription	NHDF-Ad	bronchial
21	chr4:20523400-20529800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:20523400-20529800	Weak transcription	NHEK	skin
23	chr4:20524200-20555200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:20524800-20529600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:20525000-20536600	Weak transcription	Gastric	stomach
26	chr4:20525200-20555400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:20526000-20529600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:20526000-20529600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:20526200-20528400	Weak transcription	Fetal Lung	lung
30	chr4:20527600-20527800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:20527800-20529200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:20528200-20535600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:20528400-20530200	Strong transcription	Fetal Lung	lung
34	chr4:20529200-20539200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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