Variant report

Variant	esv1831040
Chromosome Location	chr1:203356266-203371401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:203366694-203366869	K562	blood:	n/a	n/a
2	CEBPB	chr1:203359474-203359731	K562	blood:	n/a	chr1:203359586-203359597
3	CEBPB	chr1:203364822-203365324	MCF-7	breast:	n/a	chr1:203365060-203365071
4	CEBPB	chr1:203364999-203365208	K562	blood:	n/a	chr1:203365060-203365071
5	CEBPB	chr1:203359506-203359710	HepG2	liver:	n/a	chr1:203359586-203359597
6	CEBPB	chr1:203359475-203359769	H1-hESC	embryonic stem cell:	n/a	chr1:203359586-203359597
7	CEBPB	chr1:203359571-203359624	Hela-S3	cervix:	n/a	chr1:203359586-203359597
8	CEBPB	chr1:203364902-203365217	IMR90	lung:	n/a	chr1:203365060-203365071
9	CEBPB	chr1:203370315-203370515	IMR90	lung:	n/a	chr1:203370406-203370414
10	CEBPB	chr1:203365024-203365106	HepG2	liver:	n/a	chr1:203365060-203365071
11	CEBPB	chr1:203370337-203370554	A549	lung:	n/a	chr1:203370406-203370414
12	CEBPB	chr1:203359442-203359738	IMR90	lung:	n/a	chr1:203359586-203359597
13	CEBPB	chr1:203370257-203370461	HepG2	liver:	n/a	chr1:203370406-203370414
14	CEBPB	chr1:203364947-203365295	MCF-7	breast:	n/a	chr1:203365060-203365071
15	CEBPB	chr1:203359447-203359710	A549	lung:	n/a	chr1:203359586-203359597
16	CEBPB	chr1:203360621-203360858	IMR90	lung:	n/a	n/a
17	CTCF	chr1:203365020-203365170	HFF	foreskin:	n/a	n/a
18	CTCF	chr1:203364920-203365070	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr1:203364840-203364990	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr1:203364880-203365030	NHLF	lung:	n/a	n/a
21	CTCF	chr1:203364960-203365110	HPF	lung:	n/a	n/a
22	CTCF	chr1:203365000-203365150	HPF	lung:	n/a	n/a
23	CTCF	chr1:203365000-203365150	BJ	skin:	n/a	n/a
24	CTCF	chr1:203364940-203365090	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr1:203364980-203365130	HMF	breast:	n/a	n/a
26	CTCF	chr1:203365000-203365150	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr1:203364940-203365090	HVMF	connective:	n/a	n/a
28	CTCF	chr1:203364940-203365090	AG04450	lung:	n/a	n/a
29	CTCF	chr1:203365020-203365170	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr1:203364980-203365130	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr1:203365080-203365230	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:203365060-203365210	NHLF	lung:	n/a	n/a
33	CTCF	chr1:203364960-203365110	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr1:203364960-203365110	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr1:203364940-203365090	HMF	breast:	n/a	n/a
36	CTCF	chr1:203364940-203365090	HCM	heart:	n/a	n/a
37	CTCF	chr1:203364980-203365130	AG04450	lung:	n/a	n/a
38	CTCF	chr1:203364940-203365090	AG04449	skin:	n/a	n/a
39	CTCF	chr1:203365000-203365150	Caco-2	colon:	n/a	n/a
40	CTCF	chr1:203364960-203365110	AG10803	skin:	n/a	n/a
41	CTCF	chr1:203364940-203365090	AG09319	gingival:	n/a	n/a
42	CTCF	chr1:203364980-203365130	AG09319	gingival:	n/a	n/a
43	E2F4	chr1:203364486-203364896	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr1:203359450-203359801	HUVEC	blood vessel:	n/a	n/a
45	GATA2	chr1:203359391-203359774	HUVEC	blood vessel:	n/a	n/a
46	GATA3	chr1:203368300-203368522	SH-SY5Y	brain:	n/a	n/a
47	JUN	chr1:203359418-203359811	HUVEC	blood vessel:	n/a	n/a
48	JUN	chr1:203366703-203366830	K562	blood:	n/a	n/a
49	JUN	chr1:203367980-203368051	K562	blood:	n/a	n/a
50	JUND	chr1:203363210-203363291	HepG2	liver:	n/a	chr1:203363215-203363226

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:203358361..203360488-chr1:203376237..203377755,2	MCF-7	breast:
2	chr1:203363383..203365308-chr1:203378338..203380043,2	MCF-7	breast:
3	chr1:203356921..203359878-chr1:203411866..203413368,2	K562	blood:
4	chr1:203361371..203363134-chr1:203365960..203368253,2	K562	blood:
5	chr1:203361371..203363134-chr1:203365960..203368253,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTG2-2	chr1:203366957-203367051	XLOC_000529
2	lnc-BTG2-2	chr1:203367603-203369257	XLOC_000529
3	lnc-BTG2-2	chr1:203367603-203369257	XLOC_000529
4	lnc-BTG2-2	chr1:203367602-203369257	NONHSAT008890
5	lnc-BTG2-2	chr1:203365121-203367051	XLOC_000529
6	lnc-BTG2-2	chr1:203364731-203367051	NONHSAT008890
7	lnc-BTG2-2	chr1:203367603-203369257	XLOC_000529
8	lnc-BTG2-2	chr1:203365121-203366255	XLOC_000529
9	lnc-BTG2-2	chr1:203366143-203366255	XLOC_000529
10	lnc-BTG2-2	chr1:203367603-203369257	XLOC_000529
11	lnc-BTG2-2	chr1:203366957-203367051	XLOC_000529
12	lnc-FMOD-5	chr1:203369394-203369709	NONHSAT008892
13	lnc-BTG2-2	chr1:203366957-203367051	XLOC_000529
14	lnc-BTG2-2	chr1:203364732-203366255	XLOC_000529

No data

Variant related genes	Relation type
ENSG00000271588	TF binding region
SMAD4	miRNA target sites
HMGA2	miRNA target sites
HMGA1	miRNA target sites

Extended variants
information (count: 593 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540193034	chr1:203356271-203356272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572641127	chr1:203356287-203356288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541755673	chr1:203356306-203356307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182776699	chr1:203356325-203356326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4558044	chr1:203356328-203356329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs575011154	chr1:203356362-203356363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115750639	chr1:203356392-203356393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34930871	chr1:203356400-203356401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548803917	chr1:203356427-203356428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563461314	chr1:203356439-203356440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199598612	chr1:203356448-203356449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141467783	chr1:203356449-203356450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187372480	chr1:203356480-203356481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545799144	chr1:203356485-203356486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143423633	chr1:203356531-203356532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373551820	chr1:203356577-203356578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547706081	chr1:203356619-203356620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560886874	chr1:203356688-203356689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6428008	chr1:203356696-203356697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192560043	chr1:203356753-203356754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140881482	chr1:203356778-203356779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538779818	chr1:203356800-203356801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184846176	chr1:203356801-203356802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189776890	chr1:203356845-203356846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150177724	chr1:203356857-203356858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192671023	chr1:203356877-203356878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375233702	chr1:203356913-203356914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7551705	chr1:203356931-203356932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574662387	chr1:203356948-203356949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10800920	chr1:203357027-203357028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113064516	chr1:203357058-203357059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57117073	chr1:203357061-203357062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367870170	chr1:203357129-203357130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59259232	chr1:203357136-203357137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183858322	chr1:203357182-203357183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568392124	chr1:203357183-203357184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138659377	chr1:203357201-203357202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573207424	chr1:203357220-203357221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141779544	chr1:203357236-203357237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561239647	chr1:203357251-203357252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189356043	chr1:203357261-203357262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145480316	chr1:203357283-203357284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535905491	chr1:203357291-203357292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181933638	chr1:203357293-203357294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532223603	chr1:203357296-203357297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115038793	chr1:203357315-203357316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539608128	chr1:203357419-203357420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565503436	chr1:203357430-203357431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534631877	chr1:203357466-203357467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546850005	chr1:203357467-203357468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	16573809	CNVD
Effusion lymphoma	18079361	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Urothelial tumor	18831757	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:203351800-203364800	Weak transcription	Ovary	ovary
2	chr1:203353400-203357800	Weak transcription	Adipose Nuclei	Adipose
3	chr1:203357800-203358200	Enhancers	Adipose Nuclei	Adipose
4	chr1:203358000-203358200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:203358000-203360200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:203358200-203359400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:203358200-203364800	Weak transcription	Adipose Nuclei	Adipose
8	chr1:203359200-203360400	Enhancers	HUVEC	blood vessel
9	chr1:203359400-203359800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:203359400-203359800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:203359800-203360400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:203364400-203364800	Enhancers	Fetal Lung	lung
13	chr1:203364800-203365000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:203364800-203365200	Active TSS	Ovary	ovary
15	chr1:203364800-203365400	Enhancers	Adipose Nuclei	Adipose
16	chr1:203364800-203365400	Active TSS	Fetal Lung	lung
17	chr1:203364800-203365400	Active TSS	Right Atrium	heart
18	chr1:203364800-203365400	Active TSS	NHLF	lung
19	chr1:203364800-203365600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:203365000-203365200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:203365000-203365400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:203365000-203365400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:203365000-203365400	Active TSS	NHDF-Ad	bronchial
24	chr1:203365000-203365400	Active TSS	Osteobl	bone
25	chr1:203365200-203365400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:203365400-203366200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:203365400-203369400	Weak transcription	Fetal Lung	lung
28	chr1:203365400-203375000	Weak transcription	Right Atrium	heart
29	chr1:203365600-203366400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:203366200-203366400	Enhancers	HSMMtube	muscle
31	chr1:203366200-203367200	Strong transcription	Adipose Nuclei	Adipose
32	chr1:203367200-203370800	Weak transcription	Adipose Nuclei	Adipose
33	chr1:203369400-203373600	Enhancers	Fetal Lung	lung
34	chr1:203370200-203370400	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:203370200-203371200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:203370200-203372200	Enhancers	NHLF	lung
37	chr1:203370200-203372800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:203370200-203372800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:203370200-203373000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:203370200-203373000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:203370400-203370600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr1:203370400-203370800	Enhancers	Fetal Intestine Large	intestine
43	chr1:203370400-203370800	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:203370400-203371400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:203370400-203372000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:203370400-203372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:203370400-203372800	Enhancers	Placenta	Placenta
48	chr1:203370400-203372800	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:203370400-203373000	Enhancers	Colon Smooth Muscle	Colon
50	chr1:203370400-203374200	Weak transcription	Stomach Smooth Muscle	stomach

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