Variant report

Variant	esv34074
Chromosome Location	chr1:79513444-79585652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:79545497-79545905	H1-hESC	embryonic stem cell:	n/a	chr1:79545669-79545683
2	CEBPB	chr1:79521267-79521303	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:79521185-79521360	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:79583039-79583331	IMR90	lung:	n/a	chr1:79583176-79583189
5	CEBPB	chr1:79571297-79571471	IMR90	lung:	n/a	n/a
6	CEBPB	chr1:79560648-79560811	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:79566107-79566454	IMR90	lung:	n/a	n/a
8	CEBPB	chr1:79521171-79521337	A549	lung:	n/a	n/a
9	CEBPD	chr1:79562158-79562660	K562	blood:	n/a	n/a
10	CHD1	chr1:79574652-79574670	GM12878	blood:	n/a	n/a
11	CTCF	chr1:79535520-79535670	GM12873	blood:	n/a	n/a
12	CTCF	chr1:79535600-79535750	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr1:79535580-79535730	AG10803	skin:	n/a	n/a
14	CTCF	chr1:79535580-79535730	HMF	breast:	n/a	n/a
15	CTCF	chr1:79535640-79535790	HCFaa	heart:	n/a	n/a
16	CTCF	chr1:79535700-79535850	AG09309	skin:	n/a	n/a
17	CTCF	chr1:79535920-79536070	AG09319	gingival:	n/a	n/a
18	CTCF	chr1:79545560-79545710	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr1:79535740-79535890	GM12864	blood:	n/a	n/a
20	CTCF	chr1:79535720-79535870	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr1:79535600-79535750	AG10803	skin:	n/a	n/a
22	CTCF	chr1:79535320-79535470	RPTEC	kidney:	n/a	n/a
23	CTCF	chr1:79535680-79535830	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr1:79545540-79545690	AG10803	skin:	n/a	n/a
25	CTCF	chr1:79535520-79535670	HMF	breast:	n/a	n/a
26	CTCF	chr1:79535580-79535730	AG09319	gingival:	n/a	n/a
27	CTCF	chr1:79535616-79535733	IMR90	lung:	n/a	n/a
28	CTCF	chr1:79535520-79535670	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr1:79535580-79535730	AG04450	lung:	n/a	n/a
30	CTCF	chr1:79545500-79545650	GM12866	blood:	n/a	n/a
31	CTCF	chr1:79535680-79535830	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr1:79535800-79535950	HAc	cerebellar:	n/a	n/a
33	CTCF	chr1:79535580-79535730	GM12872	blood:	n/a	n/a
34	CTCF	chr1:79535620-79535770	GM12873	blood:	n/a	n/a
35	CTCF	chr1:79535780-79535930	RPTEC	kidney:	n/a	n/a
36	CTCF	chr1:79534940-79535090	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr1:79545620-79545770	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr1:79535680-79535830	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr1:79535700-79535850	GM12873	blood:	n/a	n/a
40	CTCF	chr1:79535800-79535950	GM12864	blood:	n/a	n/a
41	CTCF	chr1:79535880-79536030	AG04450	lung:	n/a	n/a
42	CTCF	chr1:79535680-79535830	AG04450	lung:	n/a	n/a
43	CTCF	chr1:79535680-79535830	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr1:79535560-79535710	HCM	heart:	n/a	n/a
45	CTCF	chr1:79535620-79535770	SAEC	small airway:	n/a	n/a
46	CTCF	chr1:79535580-79535730	HCM	heart:	n/a	n/a
47	CTCF	chr1:79535700-79535850	BJ	skin:	n/a	n/a
48	CTCF	chr1:79535520-79535670	HRE	kidney:	n/a	n/a
49	CTCF	chr1:79535500-79535650	HEK293	kidney:	n/a	n/a
50	CTCF	chr1:79535680-79535830	HMEC	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:79536026..79538535-chr1:79539899..79541790,2	K562	blood:
2	chr1:79527063..79529337-chr1:79533334..79535055,2	K562	blood:
3	chr1:79527063..79529337-chr1:79533334..79535055,2	K562	blood:
4	chr1:79536026..79538535-chr1:79539899..79541790,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI44-7	chr1:79562042-79562232	NONHSAT004086
2	lnc-IFI44-7	chr1:79562972-79563122	NONHSAT004086

No data

Variant related genes	Relation type
PSAT1P3	TF binding region

Extended variants
information (count: 2102 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2102 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144391028	chr1:79513461-79513462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181110554	chr1:79513466-79513467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535816068	chr1:79513540-79513541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148715863	chr1:79513557-79513558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544609876	chr1:79513593-79513594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72949626	chr1:79513603-79513604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369426903	chr1:79513611-79513612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558602487	chr1:79513613-79513614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185850305	chr1:79513649-79513650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4650637	chr1:79513677-79513678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560259394	chr1:79513803-79513804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527479476	chr1:79513828-79513829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112661275	chr1:79513829-79513830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200625942	chr1:79513940-79513941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564218267	chr1:79513965-79513966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111356646	chr1:79513972-79513973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374482416	chr1:79514008-79514009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80038361	chr1:79514023-79514024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567782347	chr1:79514027-79514028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536633975	chr1:79514054-79514055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549322616	chr1:79514113-79514114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555731016	chr1:79514176-79514177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554882172	chr1:79514222-79514223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76338010	chr1:79514244-79514245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554626648	chr1:79514255-79514256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535144867	chr1:79514270-79514271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540934677	chr1:79514280-79514281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547163783	chr1:79514288-79514289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61768995	chr1:79514298-79514299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534127969	chr1:79514315-79514316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539006166	chr1:79514331-79514332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370083503	chr1:79514344-79514345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13373761	chr1:79514369-79514370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201752232	chr1:79514389-79514390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538244669	chr1:79514406-79514407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556567508	chr1:79514407-79514408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190614211	chr1:79514408-79514409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374765368	chr1:79514416-79514417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542343205	chr1:79514418-79514419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181851565	chr1:79514430-79514431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572248841	chr1:79514450-79514451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147479862	chr1:79514546-79514547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572261556	chr1:79514575-79514576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564414097	chr1:79514591-79514592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76884819	chr1:79514628-79514629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546253924	chr1:79514650-79514651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549383194	chr1:79514651-79514652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561384014	chr1:79514686-79514687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528839858	chr1:79514703-79514704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547517873	chr1:79514730-79514731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79510000-79518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:79517600-79518400	Enhancers	NHLF	lung
3	chr1:79517600-79519000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:79517800-79518200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:79518200-79518400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:79518200-79518400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:79518200-79518400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:79518200-79518400	Enhancers	HUVEC	blood vessel
9	chr1:79518400-79518600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:79518400-79518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:79518400-79518600	Enhancers	HSMM	muscle
12	chr1:79518400-79518600	Flanking Active TSS	HUVEC	blood vessel
13	chr1:79518400-79518600	Flanking Active TSS	NHLF	lung
14	chr1:79518400-79518800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:79518400-79519000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:79518400-79519000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:79518400-79519000	Active TSS	Osteobl	bone
18	chr1:79518400-79519200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:79518400-79519200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:79518400-79519200	Active TSS	Adipose Nuclei	Adipose
21	chr1:79518400-79519200	Active TSS	GM12878-XiMat	blood
22	chr1:79518400-79519200	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:79518600-79518800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:79518600-79518800	Active TSS	NHDF-Ad	bronchial
25	chr1:79518600-79518800	Active TSS	NHLF	lung
26	chr1:79518600-79519000	Active TSS	Primary B cells from cord blood	blood
27	chr1:79518600-79519000	Active TSS	Primary T cells from cord blood	blood
28	chr1:79518600-79519000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:79518600-79519000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:79518600-79519000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:79518600-79519000	Active TSS	Brain Substantia Nigra	brain
32	chr1:79518600-79519000	Active TSS	Duodenum Mucosa	Duodenum
33	chr1:79518600-79519000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:79518600-79519000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr1:79518600-79519000	Active TSS	Right Atrium	heart
36	chr1:79518600-79519000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr1:79518600-79519000	Active TSS	A549	lung
38	chr1:79518600-79519000	Active TSS	Hela-S3	cervix
39	chr1:79518600-79519000	Active TSS	HMEC	breast
40	chr1:79518600-79519200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr1:79518600-79519200	Active TSS	HUVEC	blood vessel
42	chr1:79518800-79519000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:79518800-79519000	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:79518800-79519000	Enhancers	Liver	Liver
45	chr1:79518800-79519000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr1:79518800-79519000	Flanking Active TSS	NHLF	lung
47	chr1:79518800-79519200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:79518800-79519200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:79518800-79519200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:79518800-79519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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