Variant report

Variant	esv3361866
Chromosome Location	chr6:55171042-55194198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:55185580-55185730	HEK293	kidney:	n/a	n/a
2	CTCF	chr6:55185620-55185770	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr6:55185580-55185730	HEEpiC	esophagus:	n/a	n/a
4	CTCF	chr6:55185620-55185770	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr6:55185360-55185510	HRE	kidney:	n/a	n/a
6	CTCF	chr6:55185780-55185930	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:55185660-55185810	HRE	kidney:	n/a	n/a
8	CTCF	chr6:55185660-55185810	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr6:55185620-55185770	HCT-116	colon:	n/a	n/a
10	CTCF	chr6:55185560-55185710	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr6:55185680-55185830	Caco-2	colon:	n/a	n/a
12	CTCF	chr6:55185640-55185790	Caco-2	colon:	n/a	n/a
13	E2F4	chr6:55182557-55182727	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:55172267-55172631	HUVEC	blood vessel:	n/a	n/a
15	FOXA2	chr6:55176223-55176781	A549	lung:	n/a	n/a
16	GATA3	chr6:55179442-55179565	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr6:55184763-55185004	T-47D	breast:	n/a	n/a
18	GATA3	chr6:55184746-55185051	MCF-7	breast:	n/a	n/a
19	MYC	chr6:55180468-55180542	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:55187579-55188014	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:55187679-55187865	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:55179362-55179551	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:55171145-55171235	ProgFib	skin:	n/a	n/a
24	REST	chr6:55177352-55177457	PANC-1	pancreas:	n/a	n/a
25	SPI1	chr6:55176831-55177215	GM12878	blood:	n/a	n/a
26	TCF7L2	chr6:55192866-55193151	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:55190909-55190959	AoSMC	blood vessel:	n/a
2	chr6:55190909-55190959	MCF-7	breast:	n/a
3	chr6:55192049-55192099	K562	blood:	n/a
4	chr6:55190909-55190959	NHBE	bronchial:	n/a
5	chr6:55192049-55192099	GM06990	blood:	n/a
6	chr6:55192049-55192099	HRE	kidney:	n/a
7	chr6:55190909-55190959	NH-A	brain:	n/a
8	chr6:55192049-55192099	MCF10A-Er-Src	breast:	n/a
9	chr6:55190909-55190959	GM06990	blood:	n/a
10	chr6:55190909-55190959	AG04450	lung:	fetal
11	chr6:55190909-55190959	GM19239	blood:	n/a
12	chr6:55192049-55192099	ECC-1	luminal epithelium:	n/a
13	chr6:55192049-55192099	RPTEC	kidney:	n/a
14	chr6:55190909-55190959	AG04449	skin:	fetal
15	chr6:55192049-55192099	HRPEpiC	eye:	n/a
16	chr6:55192049-55192099	HIPEpiC	eye:	n/a
17	chr6:55190909-55190959	MCF10A-Er-Src	breast:	n/a
18	chr6:55190909-55190959	IMR90	lung:	fetal
19	chr6:55192049-55192099	Jurkat	blood:	n/a
20	chr6:55190909-55190959	Caco-2	colon:	n/a
21	chr6:55192049-55192099	HCPEpiC	choroid plexus:	n/a
22	chr6:55192049-55192099	A549	lung:	n/a
23	chr6:55192049-55192099	T-47D	breast:	n/a
24	chr6:55192049-55192099	U87	brain:	n/a
25	chr6:55190909-55190959	HRPEpiC	eye:	n/a
26	chr6:55192049-55192099	Hepatocyte	liver:	n/a
27	chr6:55192049-55192099	H1-hESC	embryonic stem cell:	embryo
28	chr6:55192049-55192099	PrEC	prostate:	n/a
29	chr6:55192049-55192099	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:55192049-55192099	HEK293	kidney:	embryo
31	chr6:55192049-55192099	HL-60	blood:	n/a
32	chr6:55192049-55192099	GM12892	blood:	n/a
33	chr6:55190909-55190959	NHDF-neo	bronchial:	n/a
34	chr6:55190909-55190959	A549	lung:	n/a
35	chr6:55190909-55190959	AG09319	gingival:	n/a
36	chr6:55190909-55190959	HAEpiC	amniotic membrane:	n/a
37	chr6:55192049-55192099	SKMC	muscle:	n/a
38	chr6:55192049-55192099	Hela-S3	cervix:	n/a
39	chr6:55192049-55192099	AG09309	skin:	n/a
40	chr6:55190909-55190959	Jurkat	blood:	n/a
41	chr6:55190909-55190959	HEK293	kidney:	embryo
42	chr6:55190909-55190959	PFSK-1	brain:	n/a
43	chr6:55192049-55192099	NT2-D1	testis:	n/a
44	chr6:55192049-55192099	NB4	blood:	n/a
45	chr6:55190909-55190959	GM12891	blood:	n/a
46	chr6:55192049-55192099	HCF	heart:	n/a
47	chr6:55190909-55190959	HepG2	liver:	n/a
48	chr6:55190909-55190959	SK-N-SH_RA	brain:	n/a
49	chr6:55190909-55190959	NT2-D1	testis:	n/a
50	chr6:55192049-55192099	AoSMC	blood vessel:	n/a

No data

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

Extended variants
information (count: 100 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533920069	chr6:55184803-55184804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184949297	chr6:55184805-55184806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149259314	chr6:55184823-55184824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144447157	chr6:55184826-55184827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577005576	chr6:55184827-55184828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148393952	chr6:55184858-55184859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547675175	chr6:55184869-55184870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570834594	chr6:55184873-55184874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539404745	chr6:55184919-55184920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9367633	chr6:55184938-55184939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144162982	chr6:55184941-55184942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535939320	chr6:55184958-55184959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555630587	chr6:55184972-55184973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34184272	chr6:55184999-55185000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572258202	chr6:55185037-55185038	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs6937228	chr6:55185043-55185044	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372314556	chr6:55185057-55185058	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557718932	chr6:55185074-55185075	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12526660	chr6:55185078-55185079	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552525583	chr6:55185143-55185144	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146039705	chr6:55185189-55185190	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563277522	chr6:55185194-55185195	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115645371	chr6:55185223-55185224	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9464225	chr6:55185225-55185226	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561986152	chr6:55185254-55185255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371923358	chr6:55185255-55185256	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139964545	chr6:55185259-55185260	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548072889	chr6:55185274-55185275	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs75466343	chr6:55185331-55185332	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564598478	chr6:55185337-55185338	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs79577723	chr6:55185374-55185375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189272515	chr6:55185381-55185382	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78150776	chr6:55185410-55185411	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553792986	chr6:55185439-55185440	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151194233	chr6:55185440-55185441	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528391786	chr6:55185449-55185450	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139776407	chr6:55185504-55185505	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113820262	chr6:55185536-55185537	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565881585	chr6:55185568-55185569	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149787222	chr6:55185575-55185576	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145716107	chr6:55185580-55185581	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571484958	chr6:55185607-55185608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548045753	chr6:55185616-55185617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193089354	chr6:55185619-55185620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573293112	chr6:55185670-55185671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543731790	chr6:55185677-55185678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542324379	chr6:55185687-55185688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552603613	chr6:55185699-55185700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141514445	chr6:55185735-55185736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147030124	chr6:55185737-55185738	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55184800-55185400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:55184800-55185600	Enhancers	Fetal Heart	heart
3	chr6:55184800-55185800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:55185000-55185200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:55185200-55185600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:55185600-55186000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:55192000-55192400	Active TSS	Adipose Nuclei	Adipose

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