Variant report

Variant	esv2753661
Chromosome Location	chr18:30769502-30854602
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	chr18:30812024-30812320	HepG2	liver:	n/a	n/a
2	ATF1	chr18:30822934-30823078	K562	blood:	n/a	n/a
3	BHLHE40	chr18:30812012-30812320	K562	blood:	n/a	n/a
4	CEBPB	chr18:30808584-30808722	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr18:30792278-30792864	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr18:30780884-30781023	K562	blood:	n/a	n/a
7	CEBPB	chr18:30780825-30781166	HepG2	liver:	n/a	n/a
8	CEBPB	chr18:30792357-30792802	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr18:30781624-30781824	HepG2	liver:	n/a	n/a
10	CEBPB	chr18:30832370-30832645	HepG2	liver:	n/a	chr18:30832486-30832497 chr18:30832488-30832497 chr18:30832487-30832498
11	CEBPB	chr18:30781717-30781988	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr18:30781596-30781599	HepG2	liver:	n/a	n/a
13	CREB1	chr18:30819337-30819632	GM12878	blood:	n/a	n/a
14	CTCF	chr18:30812120-30812270	HVMF	connective:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
15	CTCF	chr18:30781718-30781837	NHEK	skin:	n/a	n/a
16	CTCF	chr18:30812060-30812210	GM12873	blood:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
17	CTCF	chr18:30790660-30790810	GM12869	blood:	n/a	chr18:30790744-30790752 chr18:30790741-30790762 chr18:30790740-30790756 chr18:30790739-30790757
18	CTCF	chr18:30812060-30812210	HEK293	kidney:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
19	CTCF	chr18:30781660-30781810	GM12873	blood:	n/a	n/a
20	CTCF	chr18:30781700-30781850	HMF	breast:	n/a	n/a
21	CTCF	chr18:30781668-30781893	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr18:30811540-30811690	HepG2	liver:	n/a	n/a
23	CTCF	chr18:30811810-30811938	GM13977	blood:	n/a	n/a
24	CTCF	chr18:30790620-30790770	HAc	cerebellar:	n/a	chr18:30790744-30790752 chr18:30790741-30790762 chr18:30790740-30790756 chr18:30790739-30790757
25	CTCF	chr18:30812120-30812270	HCFaa	heart:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
26	CTCF	chr18:30811406-30812651	SK-N-SH	brain:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
27	CTCF	chr18:30781677-30781951	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr18:30812035-30812337	HUVEC	blood vessel:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
29	CTCF	chr18:30790520-30790670	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr18:30781720-30781870	HRE	kidney:	n/a	n/a
31	CTCF	chr18:30781760-30781910	BJ	skin:	n/a	n/a
32	CTCF	chr18:30781700-30781850	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr18:30781688-30781941	T-47D	breast:	n/a	n/a
34	CTCF	chr18:30790644-30790756	GM19238	blood:	n/a	chr18:30790744-30790752 chr18:30790740-30790756
35	CTCF	chr18:30811680-30811830	GM12872	blood:	n/a	n/a
36	CTCF	chr18:30781720-30781870	GM12866	blood:	n/a	n/a
37	CTCF	chr18:30811780-30811930	GM12878	blood:	n/a	n/a
38	CTCF	chr18:30812040-30812305	GM10248	blood:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
39	CTCF	chr18:30781776-30781888	GM20000	blood:	n/a	n/a
40	CTCF	chr18:30812100-30812250	GM12873	blood:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
41	CTCF	chr18:30790640-30790790	NB4	blood:	n/a	chr18:30790744-30790752 chr18:30790741-30790762 chr18:30790740-30790756 chr18:30790739-30790757
42	CTCF	chr18:30790680-30790830	GM12866	blood:	n/a	chr18:30790744-30790752 chr18:30790741-30790762 chr18:30790740-30790756 chr18:30790739-30790757
43	CTCF	chr18:30812035-30812317	GM10266	blood:	n/a	chr18:30812174-30812187 chr18:30812171-30812189 chr18:30812173-30812194
44	CTCF	chr18:30781700-30781850	HPF	lung:	n/a	n/a
45	CTCF	chr18:30790628-30790810	HepG2	liver:	n/a	chr18:30790744-30790752 chr18:30790741-30790762 chr18:30790740-30790756 chr18:30790739-30790757
46	CTCF	chr18:30811701-30811729	GM19239	blood:	n/a	n/a
47	CTCF	chr18:30790633-30790774	NHEK	skin:	n/a	chr18:30790744-30790752 chr18:30790741-30790762 chr18:30790740-30790756 chr18:30790739-30790757
48	CTCF	chr18:30781740-30781890	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr18:30781656-30781895	A549	lung:	n/a	n/a
50	CTCF	chr18:30781700-30781850	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:30779497..30781866-chr18:30785473..30787993,2	MCF-7	breast:
2	chr18:30775261..30777813-chr3:142297768..142299816,2	MCF-7	breast:
3	chr18:30781366..30781999-chr18:30811866..30812737,2	MCF-7	breast:
4	chr18:30790507..30791170-chr18:30811643..30812504,2	MCF-7	breast:
5	chr18:30812158..30812660-chr18:31418821..31419622,2	MCF-7	breast:
6	chr18:30790507..30791170-chr18:30811643..30812504,2	MCF-7	breast:
7	chr18:30262874..30263587-chr18:30781327..30782118,3	MCF-7	breast:
8	chr18:30294211..30294986-chr18:30781366..30782176,2	MCF-7	breast:
9	chr18:30779497..30781866-chr18:30785473..30787993,2	MCF-7	breast:
10	chr18:30811344..30813026-chr18:31074938..31075918,10	MCF-7	breast:
11	chr18:30845426..30847126-chr18:30849157..30851477,2	K562	blood:
12	chr18:30811761..30812470-chr18:31075224..31075931,2	MCF-7	breast:
13	chr18:30811693..30812229-chr18:31341155..31341835,2	MCF-7	breast:
14	chr18:30811754..30812512-chr18:31340551..31341524,2	MCF-7	breast:
15	chr18:30790426..30791053-chr18:31075086..31075619,2	MCF-7	breast:
16	chr18:30781366..30781999-chr18:30811866..30812737,2	MCF-7	breast:

Variant related genes	Relation type
CCDC178	TF binding region
ENSG00000242390	chromatin interactions
ENSG00000166960	chromatin interactions

Extended variants
information (count: 926 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535833528	chr18:30769507-30769508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs271453	chr18:30769521-30769522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183418016	chr18:30771837-30771838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547943483	chr18:30771949-30771950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548778075	chr18:30771956-30771957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559879271	chr18:30771997-30771998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150121766	chr18:30772053-30772054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138715464	chr18:30772195-30772196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569912445	chr18:30772198-30772199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537367795	chr18:30772211-30772212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543638481	chr18:30772239-30772240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561713522	chr18:30772266-30772267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373369427	chr18:30772270-30772271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548979798	chr18:30772358-30772359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567481015	chr18:30772432-30772433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534500321	chr18:30772459-30772460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149338	chr18:30772468-30772469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74439007	chr18:30772469-30772470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538306025	chr18:30772490-30772491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556930275	chr18:30772532-30772533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575101321	chr18:30772590-30772591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544120567	chr18:30772597-30772598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146848418	chr18:30775287-30775288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560280265	chr18:30775330-30775331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527329608	chr18:30775362-30775363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139341421	chr18:30775441-30775442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570393404	chr18:30775451-30775452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74559605	chr18:30775468-30775469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551233406	chr18:30775512-30775513	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375467728	chr18:30775531-30775532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569382423	chr18:30775571-30775572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538597740	chr18:30775601-30775602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192509218	chr18:30775631-30775632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184931515	chr18:30775756-30775757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573001221	chr18:30775776-30775777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188913916	chr18:30775788-30775789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558546630	chr18:30775800-30775801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs80017256	chr18:30775902-30775903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544209334	chr18:30775903-30775904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs193169178	chr18:30775909-30775910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574586331	chr18:30775937-30775938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542044017	chr18:30775974-30775975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556010752	chr18:30775988-30775989	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560347876	chr18:30776018-30776019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75853798	chr18:30776095-30776096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374112440	chr18:30776164-30776165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568015997	chr18:30776167-30776168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs466500	chr18:30776192-30776193	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs418480	chr18:30776228-30776229	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531319244	chr18:30776273-30776274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30765000-30769600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:30771800-30772600	Enhancers	Dnd41	blood
3	chr18:30777800-30778000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr18:30778000-30781400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:30781000-30781400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:30781000-30782600	Enhancers	Dnd41	blood
7	chr18:30781200-30781400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:30781200-30781400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:30781200-30781400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:30781200-30781400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:30781200-30781400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:30781200-30781400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr18:30781200-30781400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr18:30781200-30781400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr18:30781200-30781400	Enhancers	Fetal Kidney	kidney
16	chr18:30781200-30781400	Enhancers	HUVEC	blood vessel
17	chr18:30781200-30781600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:30781400-30781600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr18:30781400-30781600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr18:30781400-30781600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr18:30781400-30781600	Enhancers	Ovary	ovary
22	chr18:30781400-30781800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr18:30781400-30781800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:30781400-30781800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:30781400-30781800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:30781400-30781800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr18:30781400-30781800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr18:30781400-30781800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr18:30781400-30781800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr18:30781400-30781800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr18:30781400-30781800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:30781400-30781800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr18:30781400-30781800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:30781400-30781800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:30781400-30781800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:30781400-30781800	Active TSS	Brain Angular Gyrus	brain
37	chr18:30781400-30781800	Active TSS	Brain Anterior Caudate	brain
38	chr18:30781400-30781800	Active TSS	Brain Cingulate Gyrus	brain
39	chr18:30781400-30781800	Active TSS	Brain Hippocampus Middle	brain
40	chr18:30781400-30781800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr18:30781400-30781800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:30781400-30781800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr18:30781400-30781800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr18:30781400-30781800	Active TSS	Fetal Kidney	kidney
45	chr18:30781400-30781800	Enhancers	Fetal Lung	lung
46	chr18:30781400-30781800	Enhancers	Fetal Muscle Leg	muscle
47	chr18:30781400-30781800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr18:30781400-30781800	Flanking Active TSS	HUVEC	blood vessel
49	chr18:30781400-30782000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr18:30781400-30782200	Enhancers	Primary monocytes fromperipheralblood	blood

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