Variant report

Variant	nsv1034960
Chromosome Location	chr6:55152655-55243149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:55158810-55158971	H1-hESC	embryonic stem cell:	n/a	chr6:55158883-55158894
2	CEBPB	chr6:55194726-55195070	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:55158736-55159067	HepG2	liver:	n/a	chr6:55158883-55158894
4	CEBPB	chr6:55158811-55158942	Hela-S3	cervix:	n/a	chr6:55158883-55158894
5	CEBPB	chr6:55169647-55169866	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr6:55201206-55201343	HepG2	liver:	n/a	chr6:55201247-55201258
7	CEBPB	chr6:55158827-55159011	A549	lung:	n/a	chr6:55158883-55158894
8	CEBPB	chr6:55158743-55159059	IMR90	lung:	n/a	chr6:55158883-55158894
9	CEBPB	chr6:55169601-55169886	HepG2	liver:	n/a	n/a
10	CTCF	chr6:55157560-55157710	RPTEC	kidney:	n/a	n/a
11	CTCF	chr6:55158640-55158722	GM12891	blood:	n/a	n/a
12	CTCF	chr6:55158540-55158690	HepG2	liver:	n/a	n/a
13	CTCF	chr6:55158500-55158650	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr6:55157980-55158130	MCF-7	breast:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
15	CTCF	chr6:55158040-55158190	SAEC	small airway:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
16	CTCF	chr6:55158060-55158210	HBMEC	blood vessel:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
17	CTCF	chr6:55157980-55158130	AG04450	lung:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
18	CTCF	chr6:55158589-55158780	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:55158000-55158150	NHEK	skin:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
20	CTCF	chr6:55157980-55158130	GM12868	blood:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
21	CTCF	chr6:55158040-55158190	HEEpiC	esophagus:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
22	CTCF	chr6:55157932-55158203	A549	lung:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
23	CTCF	chr6:55158580-55158730	HCT-116	colon:	n/a	n/a
24	CTCF	chr6:55158078-55158182	GM10266	blood:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
25	CTCF	chr6:55158080-55158230	HAc	cerebellar:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
26	CTCF	chr6:55158000-55158150	GM12873	blood:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
27	CTCF	chr6:55157940-55158090	GM12868	blood:	n/a	n/a
28	CTCF	chr6:55185780-55185930	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:55185620-55185770	HCT-116	colon:	n/a	n/a
30	CTCF	chr6:55158000-55158150	GM12801	blood:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
31	CTCF	chr6:55158001-55158158	HepG2	liver:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
32	CTCF	chr6:55158020-55158170	GM12865	blood:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
33	CTCF	chr6:55157420-55157570	GM12872	blood:	n/a	n/a
34	CTCF	chr6:55157846-55158392	MCF-7	breast:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
35	CTCF	chr6:55157897-55158246	MCF-7	breast:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
36	CTCF	chr6:55158620-55158770	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr6:55158540-55158690	GM12873	blood:	n/a	n/a
38	CTCF	chr6:55158020-55158170	HMF	breast:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
39	CTCF	chr6:55157980-55158130	GM12864	blood:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
40	CTCF	chr6:55158560-55158710	HMEC	breast:	n/a	n/a
41	CTCF	chr6:55157940-55158090	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr6:55158080-55158230	HRPEpiC	eye:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
43	CTCF	chr6:55158500-55158650	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr6:55157940-55158090	BE2_C	brain:	n/a	n/a
45	CTCF	chr6:55158596-55158763	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:55158000-55158150	Caco-2	colon:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
47	CTCF	chr6:55158060-55158210	Hela-S3	cervix:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
48	CTCF	chr6:55158060-55158210	HRE	kidney:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
49	CTCF	chr6:55158040-55158190	AG09319	gingival:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120
50	CTCF	chr6:55158080-55158230	GM12875	blood:	n/a	chr6:55158097-55158115 chr6:55158102-55158112 chr6:55158098-55158114 chr6:55158099-55158120

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:55234172-55234222	PrEC	prostate:	n/a
2	chr6:55234172-55234222	BE2_C	brain:	n/a
3	chr6:55234085-55234135	NHBE	bronchial:	n/a
4	chr6:55190909-55190959	HRCEpiC	kidney:	n/a
5	chr6:55190909-55190959	HNPCEpiC	eye:	n/a
6	chr6:55234172-55234222	Hela-S3	cervix:	n/a
7	chr6:55190909-55190959	PFSK-1	brain:	n/a
8	chr6:55192049-55192099	HCT-116	colon:	n/a
9	chr6:55190909-55190959	AG09319	gingival:	n/a
10	chr6:55192049-55192099	HL-60	blood:	n/a
11	chr6:55192049-55192099	HPAEpiC	pulmonary alveolar:	n/a
12	chr6:55192049-55192099	HMEC	breast:	n/a
13	chr6:55234085-55234135	GM12891	blood:	n/a
14	chr6:55192049-55192099	AG09319	gingival:	n/a
15	chr6:55234085-55234135	A549	lung:	n/a
16	chr6:55234172-55234222	GM06990	blood:	n/a
17	chr6:55190909-55190959	Hela-S3	cervix:	n/a
18	chr6:55192049-55192099	MCF-7	breast:	n/a
19	chr6:55192049-55192099	HRCEpiC	kidney:	n/a
20	chr6:55190909-55190959	Hepatocyte	liver:	n/a
21	chr6:55190909-55190959	MCF10A-Er-Src	breast:	n/a
22	chr6:55234172-55234222	NT2-D1	testis:	n/a
23	chr6:55234085-55234135	HCF	heart:	n/a
24	chr6:55190909-55190959	HRE	kidney:	n/a
25	chr6:55234172-55234222	SK-N-SH_RA	brain:	n/a
26	chr6:55234085-55234135	HCM	heart:	n/a
27	chr6:55234172-55234222	BJ	skin:	n/a
28	chr6:55192049-55192099	HCPEpiC	choroid plexus:	n/a
29	chr6:55234172-55234222	AG09309	skin:	n/a
30	chr6:55192049-55192099	NB4	blood:	n/a
31	chr6:55190909-55190959	PANC-1	pancreas:	n/a
32	chr6:55234085-55234135	Hela-S3	cervix:	n/a
33	chr6:55192049-55192099	GM12891	blood:	n/a
34	chr6:55234085-55234135	K562	blood:	n/a
35	chr6:55192049-55192099	IMR90	lung:	fetal
36	chr6:55234085-55234135	HIPEpiC	eye:	n/a
37	chr6:55234172-55234222	ProgFib	skin:	n/a
38	chr6:55234085-55234135	IMR90	lung:	fetal
39	chr6:55234085-55234135	HL-60	blood:	n/a
40	chr6:55192049-55192099	H1-hESC	embryonic stem cell:	embryo
41	chr6:55192049-55192099	Hela-S3	cervix:	n/a
42	chr6:55192049-55192099	GM12878	blood:	n/a
43	chr6:55234172-55234222	HL-60	blood:	n/a
44	chr6:55190909-55190959	Jurkat	blood:	n/a
45	chr6:55234172-55234222	SK-N-SH	brain:	n/a
46	chr6:55190909-55190959	U87	brain:	n/a
47	chr6:55190909-55190959	BJ	skin:	n/a
48	chr6:55192049-55192099	AG04450	lung:	fetal
49	chr6:55234085-55234135	AG10803	skin:	n/a
50	chr6:55192049-55192099	Jurkat	blood:	n/a

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

Extended variants
information (count: 461 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571294915	chr6:55157802-55157803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370188066	chr6:55157808-55157809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543780074	chr6:55157861-55157862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537020614	chr6:55157878-55157879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144040406	chr6:55157892-55157893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187129117	chr6:55157921-55157922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2653360	chr6:55158000-55158001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189919181	chr6:55158002-55158003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150245063	chr6:55158052-55158053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79145752	chr6:55158066-55158067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182488839	chr6:55158105-55158106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113454183	chr6:55158166-55158167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149406944	chr6:55158211-55158212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558007497	chr6:55158220-55158221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114536346	chr6:55158308-55158309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543443986	chr6:55158325-55158326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144649723	chr6:55158354-55158355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187063279	chr6:55158362-55158363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529322644	chr6:55158377-55158378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542829941	chr6:55158460-55158461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559554161	chr6:55158465-55158466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148655709	chr6:55158467-55158468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551724693	chr6:55158481-55158482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538371548	chr6:55158493-55158494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372969796	chr6:55158512-55158513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189897760	chr6:55158554-55158555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530560310	chr6:55158557-55158558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376199285	chr6:55158563-55158564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539488181	chr6:55158568-55158569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371319198	chr6:55158570-55158571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142883192	chr6:55158641-55158642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535936073	chr6:55158674-55158675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572557405	chr6:55158675-55158676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147701058	chr6:55158700-55158701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200044761	chr6:55158711-55158712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386701359	chr6:55158712-55158713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2653362	chr6:55158713-55158714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558072620	chr6:55158720-55158721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377457368	chr6:55158729-55158730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371153462	chr6:55158738-55158739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541784486	chr6:55158742-55158743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555296071	chr6:55158749-55158750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528389450	chr6:55158789-55158790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577877037	chr6:55158827-55158828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543802390	chr6:55158854-55158855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190415110	chr6:55158882-55158883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557043642	chr6:55158898-55158899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550445166	chr6:55164200-55164201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560441851	chr6:55164216-55164217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535656705	chr6:55164221-55164222	Enhancers	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55157800-55159000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:55164200-55164800	Enhancers	Fetal Heart	heart
3	chr6:55164200-55165000	Enhancers	Fetal Lung	lung
4	chr6:55164400-55164800	Enhancers	Gastric	stomach
5	chr6:55164800-55165600	Enhancers	Fetal Brain Male	brain
6	chr6:55164800-55167400	Weak transcription	Fetal Heart	heart
7	chr6:55184800-55185400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:55184800-55185600	Enhancers	Fetal Heart	heart
9	chr6:55184800-55185800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:55185000-55185200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:55185200-55185600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:55185600-55186000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:55192000-55192400	Active TSS	Adipose Nuclei	Adipose
14	chr6:55205400-55206200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:55217800-55218200	Enhancers	Fetal Heart	heart
16	chr6:55233800-55234400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:55234000-55234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:55234000-55234400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:55234000-55234400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:55234600-55235000	Enhancers	Spleen	Spleen
21	chr6:55235000-55235400	Weak transcription	Spleen	Spleen
22	chr6:55235400-55235800	Enhancers	Spleen	Spleen

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