Variant report

Variant	esv32785
Chromosome Location	chr18:30413359-30471471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr18:30458916-30458920	K562	blood:	n/a	n/a
2	BHLHE40	chr18:30447572-30447614	GM12878	blood:	n/a	n/a
3	BHLHE40	chr18:30458794-30458991	HepG2	liver:	n/a	chr18:30458890-30458899 chr18:30458890-30458899 chr18:30458888-30458901 chr18:30458889-30458898
4	CCNT2	chr18:30423417-30423582	K562	blood:	n/a	n/a
5	CEBPB	chr18:30443591-30443739	K562	blood:	n/a	chr18:30443654-30443665
6	CEBPB	chr18:30459470-30459788	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr18:30459412-30459916	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr18:30443538-30443811	A549	lung:	n/a	chr18:30443654-30443665
9	CEBPB	chr18:30427712-30428020	H1-hESC	embryonic stem cell:	n/a	chr18:30427864-30427877
10	CEBPB	chr18:30443481-30443825	HepG2	liver:	n/a	chr18:30443654-30443665
11	CHD1	chr18:30469738-30469883	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr18:30427675-30428091	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr18:30427780-30427930	HMF	breast:	n/a	n/a
14	CTCF	chr18:30423500-30423650	HepG2	liver:	n/a	n/a
15	CTCF	chr18:30423716-30423742	GM12878	blood:	n/a	n/a
16	CTCF	chr18:30427820-30427970	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr18:30416761-30416800	ProgFib	skin:	n/a	n/a
18	CTCF	chr18:30423680-30423792	HepG2	liver:	n/a	n/a
19	CTCF	chr18:30427820-30427970	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr18:30423617-30423765	HepG2	liver:	n/a	n/a
21	CTCF	chr18:30423253-30423295	GM20000	blood:	n/a	n/a
22	CTCF	chr18:30423620-30423770	HepG2	liver:	n/a	n/a
23	CTCF	chr18:30427840-30427990	HRE	kidney:	n/a	n/a
24	CTCF	chr18:30416746-30416759	ProgFib	skin:	n/a	n/a
25	CTCF	chr18:30427840-30427990	HepG2	liver:	n/a	n/a
26	CTCF	chr18:30427840-30427990	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr18:30427841-30427968	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr18:30427840-30427990	HAc	cerebellar:	n/a	n/a
29	CTCF	chr18:30423683-30423775	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr18:30427860-30428010	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr18:30427840-30427990	HEK293	kidney:	n/a	n/a
32	EBF1	chr18:30464622-30464837	GM12878	blood:	n/a	n/a
33	EBF1	chr18:30464538-30464903	GM12878	blood:	n/a	n/a
34	EP300	chr18:30459194-30460286	ECC-1	luminal epithelium:	n/a	chr18:30459421-30459428 chr18:30459380-30459394
35	EP300	chr18:30459431-30460028	ECC-1	luminal epithelium:	n/a	n/a
36	ESR1	chr18:30459304-30460010	ECC-1	luminal epithelium:	n/a	n/a
37	ESR1	chr18:30459480-30460022	ECC-1	luminal epithelium:	n/a	n/a
38	ESR1	chr18:30459499-30459828	ECC-1	luminal epithelium:	n/a	n/a
39	ESR1	chr18:30459452-30459943	ECC-1	luminal epithelium:	n/a	n/a
40	ESR1	chr18:30459430-30459938	ECC-1	luminal epithelium:	n/a	n/a
41	FOS	chr18:30428828-30429050	MCF10A-Er-Src	breast:	n/a	chr18:30428953-30428963 chr18:30428952-30428964 chr18:30428954-30428962
42	FOS	chr18:30428833-30429034	MCF10A-Er-Src	breast:	n/a	chr18:30428953-30428963 chr18:30428952-30428964 chr18:30428954-30428962
43	FOS	chr18:30428960-30428988	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr18:30431417-30431659	HepG2	liver:	n/a	n/a
45	FOSL2	chr18:30442094-30442263	HepG2	liver:	n/a	n/a
46	FOXA1	chr18:30459388-30459805	ECC-1	luminal epithelium:	n/a	n/a
47	FOXA1	chr18:30441986-30442300	HepG2	liver:	n/a	n/a
48	FOXA1	chr18:30459437-30459736	ECC-1	luminal epithelium:	n/a	n/a
49	FOXA2	chr18:30441849-30442617	A549	lung:	n/a	n/a
50	FOXA2	chr18:30441976-30442280	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:30445851..30448697-chr18:30721994..30723872,2	K562	blood:
2	chr18:30409135..30412031-chr18:30417054..30419496,2	K562	blood:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012123.1.1-1	chr18:30414819-30415154	ENSG00000263765.1
2	lnc-AC012123.1.1-1	chr18:30467666-30467745	NONHSAT058871
3	lnc-AC012123.1.1-1	chr18:30414819-30415154	NONHSAT058870
4	lnc-AC012123.1.1-1	chr18:30413430-30413486	ENSG00000263765.1
5	lnc-AC012123.1.1-1	chr18:30414819-30415154	NONHSAT058871
6	lnc-AC012123.1.1-1	chr18:30445950-30445980	NONHSAT058872
7	lnc-AC012123.1.1-1	chr18:30427401-30427532	ENSG00000263765.1
8	lnc-AC012123.1.1-1	chr18:30445950-30445980	NONHSAT058871
9	lnc-AC012123.1.1-1	chr18:30414819-30415154	ENSG00000263765.1
10	lnc-AC012123.1.1-1	chr18:30445950-30445980	NONHSAT058870
11	lnc-AC012123.1.1-1	chr18:30413417-30413486	ENSG00000263765.1
12	lnc-AC012123.1.1-1	chr18:30467666-30467725	NONHSAT058872
13	lnc-AC012123.1.1-1	chr18:30415128-30415154	ENSG00000263765.1
14	lnc-AC012123.1.1-1	chr18:30420341-30420403	ENSG00000263765.1
15	lnc-AC012123.1.1-1	chr18:30414952-30415154	ENSG00000263765.1
16	lnc-AC012123.1.1-1	chr18:30417872-30418141	ENSG00000263765.1
17	lnc-AC012123.1.1-1	chr18:30415982-30416276	ENSG00000263765.1
18	lnc-AC012123.1.1-1	chr18:30445996-30446060	NONHSAT058876
19	lnc-AC012123.1.1-1	chr18:30413448-30413486	NONHSAT058872
20	lnc-AC012123.1.1-1	chr18:30467666-30467725	NONHSAT058876
21	lnc-AC012123.1.1-1	chr18:30415063-30415154	ENSG00000263765.1
22	lnc-AC012123.1.1-1	chr18:30413439-30413486	NONHSAT058871
23	lnc-AC012123.1.1-1	chr18:30414823-30415154	NONHSAT058872
24	lnc-AC012123.1.1-1	chr18:30435135-30435253	ENSG00000263765.1
25	lnc-AC012123.1.1-1	chr18:30467666-30467725	NONHSAT058870
26	lnc-AC012123.1.1-1	chr18:30413439-30413486	NONHSAT058870

No data

Variant related genes	Relation type
ENSG00000263765	TF binding region

Extended variants
information (count: 1504 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1504 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74997508	chr18:30413440-30413441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs543174079	chr18:30413447-30413448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs183538260	chr18:30413452-30413453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528946409	chr18:30413461-30413462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs547038004	chr18:30413465-30413466	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs16963902	chr18:30413479-30413480	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190508576	chr18:30414434-30414435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577884871	chr18:30414435-30414436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552606092	chr18:30414866-30414867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs569852365	chr18:30414869-30414870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs577578471	chr18:30414923-30414924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs146554288	chr18:30414926-30414927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs948368	chr18:30414966-30414967	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1893246	chr18:30414984-30414985	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs1893247	chr18:30415062-30415063	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368782337	chr18:30415081-30415082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs562280933	chr18:30415098-30415099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201610669	chr18:30415106-30415107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567261003	chr18:30415991-30415992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs534603278	chr18:30416007-30416008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs572369448	chr18:30416026-30416027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539728286	chr18:30416045-30416046	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs558056527	chr18:30416060-30416061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs546420775	chr18:30416084-30416085	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs571340487	chr18:30416128-30416129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs181010902	chr18:30416138-30416139	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs151276476	chr18:30416140-30416141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs576574955	chr18:30416271-30416272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs187156149	chr18:30417887-30417888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs191203691	chr18:30417889-30417890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs375327987	chr18:30417927-30417928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs529085983	chr18:30417929-30417930	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs76603543	chr18:30417953-30417954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538981774	chr18:30417972-30417973	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs182760046	chr18:30418043-30418044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs537606033	chr18:30418050-30418051	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs557205709	chr18:30418114-30418115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs377519119	chr18:30418136-30418137	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs199906914	chr18:30420404-30420405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34328301	chr18:30420406-30420407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs398032408	chr18:30420415-30420416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200938404	chr18:30420416-30420417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143530738	chr18:30420421-30420422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371551439	chr18:30420433-30420434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146269379	chr18:30420434-30420435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556062913	chr18:30420480-30420481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552763433	chr18:30420504-30420505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570939721	chr18:30420563-30420564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189154563	chr18:30420570-30420571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76096555	chr18:30420594-30420595	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30420400-30421600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr18:30420400-30421600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr18:30420600-30421000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:30420600-30421800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr18:30420800-30421200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr18:30420800-30421200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:30420800-30421400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:30420800-30421600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr18:30420800-30421600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:30420800-30421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr18:30421000-30421600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:30426800-30428200	Enhancers	Fetal Brain Male	brain
13	chr18:30427000-30427200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:30427000-30428400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr18:30427000-30428600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr18:30427000-30429200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr18:30427200-30427800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:30427200-30427800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr18:30427200-30427800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:30427200-30428200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr18:30427200-30428400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr18:30427400-30428200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:30427600-30428000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:30427600-30428000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:30427600-30428200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr18:30427600-30428400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:30427800-30428000	Bivalent Enhancer	Left Ventricle	heart
28	chr18:30427800-30428000	Enhancers	Right Atrium	heart
29	chr18:30427800-30428400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr18:30427800-30432000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:30428400-30428800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr18:30428400-30430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:30431400-30432200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:30432000-30432400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:30441800-30442600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr18:30442200-30442600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr18:30442200-30442600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr18:30442200-30442600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr18:30442200-30442600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr18:30442200-30442600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr18:30442200-30442600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr18:30442600-30447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr18:30444400-30447600	Weak transcription	Fetal Brain Male	brain
44	chr18:30444600-30446400	Weak transcription	Primary B cells from cord blood	blood
45	chr18:30446000-30453600	Enhancers	Primary B cells from peripheral blood	blood
46	chr18:30446400-30447000	Enhancers	Primary B cells from cord blood	blood
47	chr18:30446600-30449800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:30447000-30447200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:30447000-30447800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr18:30447000-30448200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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