Variant report

Variant	esv2497412
Chromosome Location	chr1:113611029-113614851
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	ARID3A	chr1:113614699-113615830	K562	blood:	n/a	n/a
2	ATF1	chr1:113614716-113615966	K562	blood:	n/a	n/a
3	ATF3	chr1:113614690-113615028	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr1:113614669-113615046	K562	blood:	n/a	n/a
5	ATF3	chr1:113614687-113615025	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr1:113614776-113616877	K562	blood:	n/a	chr1:113616692-113616701 chr1:113616692-113616701 chr1:113616691-113616700
7	CBX3	chr1:113614710-113616713	K562	blood:	n/a	n/a
8	CCNT2	chr1:113614736-113616365	K562	blood:	n/a	n/a
9	CEBPB	chr1:113614587-113615844	K562	blood:	n/a	chr1:113614859-113614870 chr1:113615772-113615780
10	CEBPB	chr1:113614675-113615749	H1-hESC	embryonic stem cell:	n/a	chr1:113614859-113614870
11	CEBPB	chr1:113614592-113615855	K562	blood:	n/a	chr1:113614859-113614870 chr1:113615772-113615780
12	CEBPB	chr1:113614702-113616371	Hela-S3	cervix:	n/a	chr1:113614859-113614870 chr1:113615772-113615780
13	CEBPB	chr1:113614725-113615036	K562	blood:	n/a	chr1:113614859-113614870
14	CEBPB	chr1:113614699-113615474	HepG2	liver:	n/a	chr1:113614859-113614870
15	CEBPB	chr1:113614733-113615981	A549	lung:	n/a	chr1:113614859-113614870 chr1:113615772-113615780
16	CEBPB	chr1:113614761-113615472	IMR90	lung:	n/a	chr1:113614859-113614870
17	CEBPD	chr1:113614604-113616127	K562	blood:	n/a	n/a
18	CEBPD	chr1:113614650-113616514	K562	blood:	n/a	n/a
19	CTCF	chr1:113614711-113616719	A549	lung:	n/a	chr1:113615386-113615399 chr1:113615383-113615401
20	CTCF	chr1:113614680-113614830	BJ	skin:	n/a	n/a
21	CTCF	chr1:113614800-113614950	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr1:113614660-113614810	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr1:113614771-113616621	HCT-116	colon:	n/a	chr1:113615386-113615399 chr1:113615383-113615401
24	CTCF	chr1:113614616-113616959	SK-N-SH	brain:	n/a	chr1:113615386-113615399 chr1:113615383-113615401
25	CUX1	chr1:113614496-113616224	K562	blood:	n/a	n/a
26	ELK1	chr1:113614823-113614905	K562	blood:	n/a	n/a
27	EP300	chr1:113614668-113616414	K562	blood:	n/a	n/a
28	GATA1	chr1:113614559-113616125	PBDE	blood:	n/a	n/a
29	GATA2	chr1:113614842-113615759	K562	blood:	n/a	n/a
30	HCFC1	chr1:113614825-113617080	Hela-S3	cervix:	n/a	n/a
31	HCFC1	chr1:113614756-113616431	K562	blood:	n/a	n/a
32	HEY1	chr1:113614757-113615063	K562	blood:	n/a	n/a
33	IRF1	chr1:113614788-113616710	K562	blood:	n/a	chr1:113615772-113615781
34	JUN	chr1:113614768-113616782	K562	blood:	n/a	n/a
35	JUN	chr1:113614096-113617273	K562	blood:	n/a	chr1:113617087-113617097 chr1:113617087-113617097 chr1:113617087-113617097 chr1:113617087-113617097
36	JUND	chr1:113614654-113616425	K562	blood:	n/a	n/a
37	JUND	chr1:113614780-113616383	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUND	chr1:113614831-113615940	Hela-S3	cervix:	n/a	n/a
39	KAP1	chr1:113614797-113616011	U2OS	brain:	n/a	n/a
40	MAFF	chr1:113614723-113615025	HepG2	liver:	n/a	chr1:113614863-113614881
41	MAFF	chr1:113614686-113615637	K562	blood:	n/a	chr1:113614863-113614881
42	MAFK	chr1:113614682-113616300	K562	blood:	n/a	chr1:113614864-113614879
43	MAFK	chr1:113614717-113615052	HepG2	liver:	n/a	chr1:113614864-113614879
44	MAFK	chr1:113614772-113614999	H1-hESC	embryonic stem cell:	n/a	chr1:113614864-113614879
45	MAFK	chr1:113614763-113616541	Hela-S3	cervix:	n/a	chr1:113616394-113616405 chr1:113614864-113614879
46	MAFK	chr1:113614687-113615047	HepG2	liver:	n/a	chr1:113614864-113614879
47	MAFK	chr1:113614746-113614995	IMR90	lung:	n/a	chr1:113614864-113614879
48	MAX	chr1:113614749-113616497	K562	blood:	n/a	chr1:113614819-113614829
49	MAZ	chr1:113614679-113616531	K562	blood:	n/a	chr1:113614819-113614829
50	MYC	chr1:113614773-113616870	K562	blood:	n/a	chr1:113614819-113614829 chr1:113616695-113616703 chr1:113616690-113616703

No.	Distal block	Cell Line	Cell type
1	chr1:113495059..113500488-chr1:113613593..113618010,11	K562	blood:
2	chr1:113257532..113261488-chr1:113614794..113617265,4	K562	blood:
3	chr1:113613175..113615596-chr1:113621813..113624852,3	K562	blood:
4	chr1:113608350..113611727-chr1:113613792..113617308,4	MCF-7	breast:
5	chr1:113493791..113500715-chr1:113613796..113618010,15	K562	blood:
6	chr1:113610863..113612583-chr1:113613310..113615320,3	K562	blood:
7	chr1:113610863..113612583-chr1:113613310..113615320,3	K562	blood:
8	chr1:113608530..113612583-chr1:113612814..113618341,10	K562	blood:
9	chr1:113614064..113616964-chr1:113668302..113669880,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A1-2	chr1:113614707-113615830	NONHSAT005314

Variant related genes	Relation type
LRIG2	TF binding region
ENSG00000226419	chromatin interactions
ENSG00000261595	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000238198	chromatin interactions
ENSG00000155367	chromatin interactions
ENSG00000237278	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565283230	chr1:113611063-113611064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188021302	chr1:113611091-113611092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551068950	chr1:113611106-113611107	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529119339	chr1:113611117-113611118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs55737720	chr1:113611126-113611127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370484904	chr1:113611150-113611151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567319209	chr1:113611209-113611210	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs115522588	chr1:113611293-113611294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546899067	chr1:113611318-113611319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566810097	chr1:113611328-113611329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200007576	chr1:113611338-113611339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201697192	chr1:113611340-113611341	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200088114	chr1:113611341-113611342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538939604	chr1:113611342-113611343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558230434	chr1:113611344-113611345	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568852779	chr1:113611345-113611346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537518284	chr1:113611371-113611372	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554679081	chr1:113611453-113611454	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573881678	chr1:113611674-113611675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200826268	chr1:113611687-113611688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs28494698	chr1:113611759-113611760	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9662686	chr1:113611873-113611874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376069652	chr1:113611932-113611933	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs28613088	chr1:113612161-113612162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111847526	chr1:113612222-113612223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374522756	chr1:113612232-113612233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs28690899	chr1:113612380-113612381	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs28606526	chr1:113612389-113612390	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs28430817	chr1:113612453-113612454	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368426090	chr1:113612486-113612487	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557762859	chr1:113612487-113612488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542854198	chr1:113613675-113613676	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs553249759	chr1:113613755-113613756	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370010307	chr1:113613763-113613764	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs183908285	chr1:113613794-113613795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563016774	chr1:113613814-113613815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565959918	chr1:113613850-113613851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs201869047	chr1:113613881-113613882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199849387	chr1:113613935-113613936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565098470	chr1:113613936-113613937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149606737	chr1:113613979-113613980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539790927	chr1:113613995-113613996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558670606	chr1:113614019-113614020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544355077	chr1:113614025-113614026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111521908	chr1:113614075-113614076	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs561464982	chr1:113614076-113614077	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201203442	chr1:113614078-113614079	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs535430243	chr1:113614086-113614087	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201907489	chr1:113614087-113614088	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371341175	chr1:113614095-113614096	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113600400-113614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:113600400-113614800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:113600400-113615000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:113602400-113615000	Weak transcription	Right Atrium	heart
5	chr1:113602600-113614800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:113610600-113611200	Enhancers	Fetal Intestine Large	intestine
7	chr1:113610600-113611200	Enhancers	Fetal Intestine Small	intestine
8	chr1:113610600-113611200	Enhancers	HepG2	liver
9	chr1:113610800-113611200	Enhancers	A549	lung
10	chr1:113611200-113614200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:113611200-113614400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:113611200-113614400	Weak transcription	HepG2	liver
13	chr1:113611200-113614800	Weak transcription	A549	lung
14	chr1:113614200-113614400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:113614200-113614600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:113614200-113614800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:113614200-113614800	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:113614200-113614800	Enhancers	Fetal Heart	heart
19	chr1:113614200-113614800	Enhancers	K562	blood
20	chr1:113614200-113615000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:113614200-113615000	Enhancers	Fetal Intestine Small	intestine
22	chr1:113614400-113614600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:113614400-113614600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:113614400-113614600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:113614400-113614600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:113614400-113614600	Enhancers	HepG2	liver
27	chr1:113614400-113614800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:113614400-113614800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:113614400-113614800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:113614400-113614800	Enhancers	Liver	Liver
31	chr1:113614400-113614800	Enhancers	Dnd41	blood
32	chr1:113614400-113615000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:113614400-113615000	Enhancers	Fetal Intestine Large	intestine
34	chr1:113614400-113615000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:113614400-113615200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:113614600-113614800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:113614600-113614800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:113614600-113614800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:113614600-113614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:113614600-113614800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:113614600-113614800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr1:113614600-113614800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:113614600-113614800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:113614600-113614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:113614600-113614800	Enhancers	Adipose Nuclei	Adipose
46	chr1:113614600-113614800	Enhancers	Brain Anterior Caudate	brain
47	chr1:113614600-113614800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:113614600-113614800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:113614600-113614800	Enhancers	Brain Substantia Nigra	brain
50	chr1:113614600-113614800	Enhancers	Fetal Brain Female	brain

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