Variant report

Variant	esv1845300
Chromosome Location	chr8:39388660-39427036
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	chr8:39424300-39424895	HepG2	liver:	n/a	chr8:39424646-39424662
2	ARID3A	chr8:39391480-39391748	K562	blood:	n/a	n/a
3	ARID3A	chr8:39393079-39393534	K562	blood:	n/a	n/a
4	ATF1	chr8:39393057-39393338	K562	blood:	n/a	n/a
5	ATF3	chr8:39390540-39390824	K562	blood:	n/a	n/a
6	BHLHE40	chr8:39393076-39393265	K562	blood:	n/a	n/a
7	CBX3	chr8:39403680-39403937	K562	blood:	n/a	n/a
8	CBX3	chr8:39392968-39393340	K562	blood:	n/a	n/a
9	CCNT2	chr8:39390615-39390831	K562	blood:	n/a	n/a
10	CEBPB	chr8:39425240-39425556	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:39390555-39390826	K562	blood:	n/a	n/a
12	CEBPB	chr8:39392971-39393463	K562	blood:	n/a	n/a
13	CEBPB	chr8:39393010-39393254	K562	blood:	n/a	n/a
14	CEBPB	chr8:39391451-39391754	IMR90	lung:	n/a	chr8:39391593-39391604
15	CEBPB	chr8:39393043-39393343	K562	blood:	n/a	n/a
16	CEBPB	chr8:39417741-39418065	HepG2	liver:	n/a	chr8:39417873-39417884 chr8:39417830-39417841
17	CEBPB	chr8:39391429-39391709	HepG2	liver:	n/a	chr8:39391593-39391604
18	CEBPB	chr8:39390600-39390943	K562	blood:	n/a	n/a
19	CEBPB	chr8:39391427-39391768	K562	blood:	n/a	chr8:39391593-39391604
20	CEBPB	chr8:39417791-39417944	K562	blood:	n/a	chr8:39417873-39417884 chr8:39417830-39417841
21	CEBPB	chr8:39417758-39418058	IMR90	lung:	n/a	chr8:39417873-39417884 chr8:39417830-39417841
22	CEBPD	chr8:39392946-39393345	K562	blood:	n/a	n/a
23	CEBPD	chr8:39392925-39393295	K562	blood:	n/a	n/a
24	CEBPD	chr8:39390527-39390847	K562	blood:	n/a	n/a
25	CEBPD	chr8:39390559-39390864	K562	blood:	n/a	n/a
26	CTCF	chr8:39398739-39398785	Medullo	brain:	n/a	n/a
27	CTCF	chr8:39411060-39411210	GM12874	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
28	CTCF	chr8:39411080-39411230	MCF-7	breast:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
29	CTCF	chr8:39410957-39411333	GM12878	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
30	CTCF	chr8:39411140-39411290	BE2_C	brain:	n/a	chr8:39411141-39411149 chr8:39411141-39411154 chr8:39411141-39411154
31	CTCF	chr8:39411020-39411170	HAc	cerebellar:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
32	CTCF	chr8:39411080-39411230	GM12871	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
33	CTCF	chr8:39411077-39411205	A549	lung:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
34	CTCF	chr8:39411140-39411290	GM06990	blood:	n/a	chr8:39411141-39411149 chr8:39411141-39411154 chr8:39411141-39411154
35	CTCF	chr8:39411094-39411217	K562	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
36	CTCF	chr8:39411040-39411190	GM12868	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
37	CTCF	chr8:39410960-39411343	HCT-116	colon:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
38	CTCF	chr8:39411106-39411186	GM19238	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
39	CTCF	chr8:39410957-39411226	H1-hESC	embryonic stem cell:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
40	CTCF	chr8:39411060-39411210	GM12865	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
41	CTCF	chr8:39411000-39411150	GM12872	blood:	n/a	chr8:39411141-39411149
42	CTCF	chr8:39411080-39411230	HVMF	connective:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
43	CTCF	chr8:39411040-39411190	A549	lung:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
44	CTCF	chr8:39411040-39411190	RPTEC	kidney:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
45	CTCF	chr8:39411000-39411150	Hela-S3	cervix:	n/a	chr8:39411141-39411149
46	CTCF	chr8:39410996-39411500	SK-N-SH	brain:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
47	CTCF	chr8:39411020-39411170	HCM	heart:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
48	CTCF	chr8:39411080-39411230	HMEC	breast:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
49	CTCF	chr8:39411046-39411240	Hela-S3	cervix:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
50	CTCF	chr8:39411053-39411238	LNCaP	prostate:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154

No.	Distal block	Cell Line	Cell type
1	chr8:39381512..39383756-chr8:39389034..39392927,3	K562	blood:
2	chr8:39410966..39411938-chr8:39709121..39709647,2	MCF-7	breast:
3	chr8:39383877..39386094-chr8:39398092..39400099,2	K562	blood:
4	chr8:39382256..39384894-chr8:39388828..39390534,2	K562	blood:
5	chr8:39410685..39412216-chr8:39708899..39710030,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM18-2	chr8:39415511-39415698	NONHSAT126172
2	lnc-ADAM18-1	chr8:39424224-39424336	ENSG00000254082
3	lnc-ADAM18-2	chr8:39415865-39416173	NONHSAT126172
4	lnc-ADAM18-2	chr8:39413665-39413968	NONHSAT126172
5	lnc-ADAM18-1	chr8:39420631-39420645	NONHSAT126174
6	lnc-ADAM18-2	chr8:39412110-39413320	NONHSAT126172
7	lnc-ADAM18-1	chr8:39424225-39424336	NONHSAT126174
8	lnc-ADAM18-1	chr8:39424224-39424336	NONHSAT126175

Variant related genes	Relation type
ENSG00000252176	TF binding region
ENSG00000254067	TF binding region
ENSG00000254082	TF binding region

Extended variants
information (count: 1074 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552487558	chr8:39388731-39388732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529106660	chr8:39388758-39388759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148161161	chr8:39388767-39388768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550695416	chr8:39388774-39388775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531627707	chr8:39388788-39388789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187116804	chr8:39388791-39388792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571426793	chr8:39388801-39388802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533994074	chr8:39388900-39388901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6993045	chr8:39388919-39388920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567799581	chr8:39388959-39388960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76637970	chr8:39388965-39388966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556856805	chr8:39388968-39388969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576647696	chr8:39388974-39388975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544254202	chr8:39389025-39389026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191940770	chr8:39389040-39389041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577831065	chr8:39389058-39389059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182035954	chr8:39389064-39389065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117552106	chr8:39389142-39389143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529135388	chr8:39389190-39389191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28526666	chr8:39389230-39389231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78158408	chr8:39389243-39389244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28693701	chr8:39389255-39389256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs28469304	chr8:39389294-39389295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184903243	chr8:39389307-39389308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569426551	chr8:39389313-39389314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74815013	chr8:39389344-39389345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527781349	chr8:39389356-39389357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6415696	chr8:39389363-39389364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567644349	chr8:39389388-39389389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56316550	chr8:39389416-39389417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs550085254	chr8:39389464-39389465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570385831	chr8:39389469-39389470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539304987	chr8:39389590-39389591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573033912	chr8:39389593-39389594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189760739	chr8:39389609-39389610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34281772	chr8:39389610-39389611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141858672	chr8:39389626-39389627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114673707	chr8:39389641-39389642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553864144	chr8:39389642-39389643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573630600	chr8:39389674-39389675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542828025	chr8:39389685-39389686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562508528	chr8:39389768-39389769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146353337	chr8:39389782-39389783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139192102	chr8:39389787-39389788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564835157	chr8:39389876-39389877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569012068	chr8:39389893-39389894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377289299	chr8:39389906-39389907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113203671	chr8:39389926-39389927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547459430	chr8:39389940-39389941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76268356	chr8:39389944-39389945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Cancer	21249187	CNVD
Autism	19287141	CNVD
Rett syndrome	21593744	CNVD
Recurrent pregnancy loss	19789632	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39381800-39392400	Weak transcription	K562	blood
2	chr8:39390200-39390400	Enhancers	Fetal Intestine Large	intestine
3	chr8:39390200-39390600	Enhancers	Fetal Intestine Small	intestine
4	chr8:39390400-39390600	Enhancers	Fetal Heart	heart
5	chr8:39390400-39391600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:39391400-39391600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:39391400-39392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:39391600-39394000	Enhancers	Fetal Intestine Large	intestine
9	chr8:39391600-39395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:39392400-39392600	Enhancers	Fetal Intestine Small	intestine
11	chr8:39392400-39393000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:39392400-39393200	Enhancers	K562	blood
13	chr8:39392400-39393400	Enhancers	Fetal Heart	heart
14	chr8:39393000-39394200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:39401400-39404800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:39404800-39405600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:39405600-39412400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:39412400-39412600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:39412400-39413200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr8:39412600-39417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:39416400-39418200	Enhancers	Fetal Intestine Large	intestine
22	chr8:39416600-39417000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:39417000-39417200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:39417000-39417600	Enhancers	Placenta	Placenta
25	chr8:39417200-39417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:39419000-39419200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:39419200-39419400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:39424200-39425000	Enhancers	HepG2	liver
29	chr8:39425000-39425800	Weak transcription	HepG2	liver
30	chr8:39425800-39426000	Enhancers	Placenta	Placenta
31	chr8:39425800-39426000	Enhancers	HepG2	liver
32	chr8:39426000-39434200	Weak transcription	Placenta	Placenta

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