Variant report

Variant	nsv1021982
Chromosome Location	chr6:55164510-55213989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:55201206-55201343	HepG2	liver:	n/a	chr6:55201247-55201258
2	CEBPB	chr6:55194726-55195070	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:55169601-55169886	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:55169647-55169866	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr6:55185660-55185810	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr6:55185580-55185730	HEK293	kidney:	n/a	n/a
7	CTCF	chr6:55169703-55169724	Lung_OC	lung:	n/a	n/a
8	CTCF	chr6:55185680-55185830	Caco-2	colon:	n/a	n/a
9	CTCF	chr6:55185660-55185810	HRE	kidney:	n/a	n/a
10	CTCF	chr6:55185640-55185790	Caco-2	colon:	n/a	n/a
11	CTCF	chr6:55185360-55185510	HRE	kidney:	n/a	n/a
12	CTCF	chr6:55185620-55185770	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr6:55185560-55185710	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr6:55185620-55185770	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr6:55185580-55185730	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr6:55185620-55185770	HCT-116	colon:	n/a	n/a
17	CTCF	chr6:55185780-55185930	MCF-7	breast:	n/a	n/a
18	E2F4	chr6:55182557-55182727	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr6:55172267-55172631	HUVEC	blood vessel:	n/a	n/a
20	FOXA2	chr6:55176223-55176781	A549	lung:	n/a	n/a
21	GATA3	chr6:55179442-55179565	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr6:55184746-55185051	MCF-7	breast:	n/a	n/a
23	GATA3	chr6:55184763-55185004	T-47D	breast:	n/a	n/a
24	KAP1	chr6:55198222-55198422	K562	blood:	n/a	n/a
25	MAFK	chr6:55204729-55204857	HepG2	liver:	n/a	chr6:55204761-55204776 chr6:55204766-55204775
26	MYC	chr6:55180468-55180542	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:55171145-55171235	ProgFib	skin:	n/a	n/a
28	POLR2A	chr6:55187579-55188014	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:55194256-55194456	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:55169772-55169820	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr6:55165980-55166017	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:55179362-55179551	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr6:55166851-55167020	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:55187679-55187865	MCF10A-Er-Src	breast:	n/a	n/a
35	REST	chr6:55177352-55177457	PANC-1	pancreas:	n/a	n/a
36	SPI1	chr6:55176831-55177215	GM12878	blood:	n/a	n/a
37	SPI1	chr6:55209412-55209560	GM12891	blood:	n/a	n/a
38	STAT3	chr6:55168911-55169111	MCF10A-Er-Src	breast:	n/a	chr6:55169088-55169095
39	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	chr6:55192049-55192099	HNPCEpiC	eye:	n/a
2	chr6:55192049-55192099	HIPEpiC	eye:	n/a
3	chr6:55192049-55192099	SKMC	muscle:	n/a
4	chr6:55190909-55190959	T-47D	breast:	n/a
5	chr6:55192049-55192099	LNCaP	prostate:	n/a
6	chr6:55190909-55190959	HCF	heart:	n/a
7	chr6:55190909-55190959	CMK	blood:	n/a
8	chr6:55190909-55190959	SK-N-SH	brain:	n/a
9	chr6:55190909-55190959	HIPEpiC	eye:	n/a
10	chr6:55190909-55190959	NT2-D1	testis:	n/a
11	chr6:55192049-55192099	AG09319	gingival:	n/a
12	chr6:55192049-55192099	NT2-D1	testis:	n/a
13	chr6:55190909-55190959	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:55192049-55192099	AG04450	lung:	fetal
15	chr6:55190909-55190959	ECC-1	luminal epithelium:	n/a
16	chr6:55192049-55192099	IMR90	lung:	fetal
17	chr6:55190909-55190959	HL-60	blood:	n/a
18	chr6:55192049-55192099	BE2_C	brain:	n/a
19	chr6:55190909-55190959	HRPEpiC	eye:	n/a
20	chr6:55190909-55190959	Jurkat	blood:	n/a
21	chr6:55192049-55192099	PFSK-1	brain:	n/a
22	chr6:55192049-55192099	HCPEpiC	choroid plexus:	n/a
23	chr6:55190909-55190959	RPTEC	kidney:	n/a
24	chr6:55190909-55190959	HepG2	liver:	n/a
25	chr6:55192049-55192099	HL-60	blood:	n/a
26	chr6:55192049-55192099	HRCEpiC	kidney:	n/a
27	chr6:55190909-55190959	U87	brain:	n/a
28	chr6:55190909-55190959	IMR90	lung:	fetal
29	chr6:55190909-55190959	HAEpiC	amniotic membrane:	n/a
30	chr6:55192049-55192099	HepG2	liver:	n/a
31	chr6:55192049-55192099	H1-hESC	embryonic stem cell:	embryo
32	chr6:55192049-55192099	HEK293	kidney:	embryo
33	chr6:55190909-55190959	AG10803	skin:	n/a
34	chr6:55192049-55192099	NHBE	bronchial:	n/a
35	chr6:55190909-55190959	LNCaP	prostate:	n/a
36	chr6:55192049-55192099	BJ	skin:	n/a
37	chr6:55192049-55192099	AG04449	skin:	fetal
38	chr6:55190909-55190959	BJ	skin:	n/a
39	chr6:55192049-55192099	NHDF-neo	bronchial:	n/a
40	chr6:55190909-55190959	GM19239	blood:	n/a
41	chr6:55192049-55192099	U87	brain:	n/a
42	chr6:55192049-55192099	AoSMC	blood vessel:	n/a
43	chr6:55190909-55190959	AoSMC	blood vessel:	n/a
44	chr6:55192049-55192099	AG10803	skin:	n/a
45	chr6:55190909-55190959	GM12891	blood:	n/a
46	chr6:55190909-55190959	HEEpiC	esophagus:	n/a
47	chr6:55192049-55192099	ProgFib	skin:	n/a
48	chr6:55190909-55190959	K562	blood:	n/a
49	chr6:55192049-55192099	K562	blood:	n/a
50	chr6:55190909-55190959	NHBE	bronchial:	n/a

No data

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

Extended variants
information (count: 281 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142893138	chr6:55164512-55164513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188353580	chr6:55164521-55164522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560145197	chr6:55164626-55164627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147406298	chr6:55164627-55164628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571770634	chr6:55164759-55164760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180718497	chr6:55164760-55164761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186570354	chr6:55164761-55164762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545001613	chr6:55164776-55164777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78730983	chr6:55164805-55164806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530434977	chr6:55164812-55164813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550503481	chr6:55164824-55164825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560671356	chr6:55164833-55164834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529710114	chr6:55164836-55164837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529020441	chr6:55164852-55164853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191367689	chr6:55164908-55164909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370633315	chr6:55164914-55164915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565963168	chr6:55164916-55164917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2811236	chr6:55164928-55164929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138075042	chr6:55164963-55164964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571868002	chr6:55164980-55164981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537050369	chr6:55165009-55165010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35783589	chr6:55165055-55165056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577207654	chr6:55165091-55165092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143127797	chr6:55165114-55165115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574197320	chr6:55165152-55165153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181286607	chr6:55165153-55165154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553481341	chr6:55165172-55165173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185995133	chr6:55165176-55165177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537630467	chr6:55165202-55165203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567014134	chr6:55165241-55165242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545149901	chr6:55165270-55165271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1472643	chr6:55165271-55165272	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2653364	chr6:55165290-55165291	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190407847	chr6:55165298-55165299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543880732	chr6:55165302-55165303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183350213	chr6:55165326-55165327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62418179	chr6:55165354-55165355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147475612	chr6:55165372-55165373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539988343	chr6:55165385-55165386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559808466	chr6:55165404-55165405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528686190	chr6:55165414-55165415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551902012	chr6:55165441-55165442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186115479	chr6:55165498-55165499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531198322	chr6:55165585-55165586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551279668	chr6:55165677-55165678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16886551	chr6:55165692-55165693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191053368	chr6:55165710-55165711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553543004	chr6:55165715-55165716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182346111	chr6:55165781-55165782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139293816	chr6:55165804-55165805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55164200-55164800	Enhancers	Fetal Heart	heart
2	chr6:55164200-55165000	Enhancers	Fetal Lung	lung
3	chr6:55164400-55164800	Enhancers	Gastric	stomach
4	chr6:55164800-55165600	Enhancers	Fetal Brain Male	brain
5	chr6:55164800-55167400	Weak transcription	Fetal Heart	heart
6	chr6:55184800-55185400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:55184800-55185600	Enhancers	Fetal Heart	heart
8	chr6:55184800-55185800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:55185000-55185200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:55185200-55185600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:55185600-55186000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:55192000-55192400	Active TSS	Adipose Nuclei	Adipose
13	chr6:55205400-55206200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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