Variant report

Variant	esv3478504
Chromosome Location	chr8:11243542-11249140
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	CEBPB	chr8:11244101-11244368	HepG2	liver:	n/a	chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249
2	CEBPB	chr8:11244061-11244296	A549	lung:	n/a	chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249
3	CEBPB	chr8:11244124-11244287	K562	blood:	n/a	chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249
4	CTCF	chr8:11247780-11247930	HepG2	liver:	n/a	n/a
5	CTCF	chr8:11247889-11247918	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:11247820-11247970	GM12865	blood:	n/a	n/a
7	CTCF	chr8:11247860-11248010	GM12873	blood:	n/a	n/a
8	CTCF	chr8:11245280-11245430	GM06990	blood:	n/a	n/a
9	CTCF	chr8:11247880-11248030	GM12872	blood:	n/a	n/a
10	EP300	chr8:11244101-11244231	K562	blood:	n/a	n/a
11	GATA3	chr8:11243460-11243578	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr8:11244654-11245125	MCF-7	breast:	n/a	n/a
13	MAFF	chr8:11243930-11244072	HepG2	liver:	n/a	chr8:11243981-11243995 chr8:11243982-11244000
14	MAFF	chr8:11246513-11246670	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246598-11246616
15	MAFK	chr8:11243901-11244101	HepG2	liver:	n/a	chr8:11243978-11243998 chr8:11243983-11243998 chr8:11243980-11243996
16	MAFK	chr8:11246439-11246723	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614
17	MAFK	chr8:11246526-11246726	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614
18	MAFK	chr8:11243942-11244103	HepG2	liver:	n/a	chr8:11243978-11243998 chr8:11243983-11243998 chr8:11243980-11243996
19	MYC	chr8:11245996-11246142	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:11247773-11247777	Gliobla	brain:	n/a	n/a
21	POLR2A	chr8:11247328-11247426	Gliobla	brain:	n/a	n/a
22	RFX5	chr8:11244116-11244130	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11141582..11144222-chr8:11248890..11251574,2	K562	blood:
2	chr8:11220966..11222998-chr8:11244334..11246099,2	MCF-7	breast:
3	chr8:11241230..11243986-chr8:11247872..11250169,2	K562	blood:
4	chr8:11142292..11144724-chr8:11241964..11244169,2	K562	blood:
5	chr8:11242265..11244818-chr8:11252582..11254482,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf12-1	chr8:11247933-11248244	NONHSAT125054

Variant related genes	Relation type
C8orf12	TF binding region
ENSG00000184608	chromatin interactions
ENSG00000104643	chromatin interactions
ENSG00000199368	chromatin interactions

Extended variants
information (count: 271 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554782496	chr8:11243551-11243552	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs576275890	chr8:11243604-11243605	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs192037035	chr8:11243638-11243639	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558533056	chr8:11243647-11243648	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577173095	chr8:11243694-11243695	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs541064525	chr8:11243695-11243696	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs184224487	chr8:11243697-11243698	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs530123755	chr8:11243727-11243728	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs542049405	chr8:11243728-11243729	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs187003628	chr8:11243737-11243738	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs530976718	chr8:11243738-11243739	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372860819	chr8:11243759-11243760	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs191428878	chr8:11243771-11243772	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs562205351	chr8:11243787-11243788	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112700960	chr8:11243795-11243796	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs111909758	chr8:11243821-11243822	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs374178695	chr8:11243822-11243823	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553359899	chr8:11243848-11243849	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs184338053	chr8:11243877-11243878	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs536374653	chr8:11243880-11243881	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs150875461	chr8:11243907-11243908	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200573026	chr8:11243914-11243915	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs373291911	chr8:11243916-11243917	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs569874704	chr8:11243925-11243926	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs537197762	chr8:11243944-11243945	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs190794300	chr8:11243977-11243978	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs138297329	chr8:11243996-11243997	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541450003	chr8:11244018-11244019	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs76470378	chr8:11244030-11244031	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574466389	chr8:11244039-11244040	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541937070	chr8:11244070-11244071	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182028728	chr8:11244112-11244113	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs73663118	chr8:11244117-11244118	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73207465	chr8:11244159-11244160	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201641778	chr8:11244193-11244194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs35759597	chr8:11244194-11244195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs146140541	chr8:11244247-11244248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561169032	chr8:11244320-11244321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs528755795	chr8:11244337-11244338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140188547	chr8:11244339-11244340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565554621	chr8:11244358-11244359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537282887	chr8:11244619-11244620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552071192	chr8:11244636-11244637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368767116	chr8:11244668-11244669	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs181399530	chr8:11244686-11244687	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs534636254	chr8:11244706-11244707	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs111290307	chr8:11244716-11244717	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs143886095	chr8:11244717-11244718	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs535451857	chr8:11244773-11244774	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs60625333	chr8:11244793-11244794	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:138)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11244600-11244800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:11244600-11248000	Enhancers	Pancreas	Pancrea
3	chr8:11244800-11245000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:11244800-11245200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:11244800-11245600	Enhancers	NHEK	skin
6	chr8:11245000-11245200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:11245200-11247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:11245600-11247200	Weak transcription	NHEK	skin
9	chr8:11246200-11246600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:11246400-11246600	Enhancers	Gastric	stomach
11	chr8:11246600-11250200	Weak transcription	Gastric	stomach
12	chr8:11247200-11247400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:11247200-11248200	Bivalent Enhancer	NHEK	skin
14	chr8:11247400-11248200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:11247600-11247800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:11247800-11248000	Enhancers	Spleen	Spleen
17	chr8:11247800-11248400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:11247800-11248600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:11247800-11248600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:11248000-11250200	Weak transcription	Pancreas	Pancrea
21	chr8:11248200-11248400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:11248200-11248600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:11248200-11248600	Flanking Bivalent TSS/Enh	NHEK	skin
24	chr8:11248200-11249000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:11248200-11249000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:11248400-11248600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:11248400-11248800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:11248400-11249200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:11248600-11249000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:11248600-11249000	Bivalent Enhancer	Placenta	Placenta
31	chr8:11248600-11249200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:11248600-11249400	Bivalent Enhancer	NHEK	skin
33	chr8:11248600-11250200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:11248800-11249000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:11248800-11249000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:11249000-11249400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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