Variant report

Variant	esv3478499
Chromosome Location	chr8:11245121-11247552
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	CTCF	chr8:11245280-11245430	GM06990	blood:	n/a	n/a
2	GATA3	chr8:11244654-11245125	MCF-7	breast:	n/a	n/a
3	MAFF	chr8:11246513-11246670	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246598-11246616
4	MAFK	chr8:11246526-11246726	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614
5	MAFK	chr8:11246439-11246723	HepG2	liver:	n/a	chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614
6	MYC	chr8:11245996-11246142	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:11247328-11247426	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11220966..11222998-chr8:11244334..11246099,2	MCF-7	breast:

Variant related genes	Relation type
C8orf12	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573359249	chr8:11245217-11245218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540818907	chr8:11245232-11245233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79177516	chr8:11245261-11245262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183978544	chr8:11245268-11245269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574372516	chr8:11245271-11245272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554000135	chr8:11245276-11245277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374031260	chr8:11245279-11245280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12682349	chr8:11245303-11245304	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs563296797	chr8:11245325-11245326	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549026086	chr8:11245342-11245343	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545592000	chr8:11245350-11245351	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564163116	chr8:11245382-11245383	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528313590	chr8:11245423-11245424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187745005	chr8:11245453-11245454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568041104	chr8:11245485-11245486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151195312	chr8:11245489-11245490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536415570	chr8:11245493-11245494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556315844	chr8:11245500-11245501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73534344	chr8:11245562-11245563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190666325	chr8:11245613-11245614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182854122	chr8:11245623-11245624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187330569	chr8:11245638-11245639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576607968	chr8:11245661-11245662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566946977	chr8:11245800-11245801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141285487	chr8:11245811-11245812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555977418	chr8:11245830-11245831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574258551	chr8:11245845-11245846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs892796	chr8:11245863-11245864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565035993	chr8:11245874-11245875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192679290	chr8:11245967-11245968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs892795	chr8:11245971-11245972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571899475	chr8:11245979-11245980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564058469	chr8:11246043-11246044	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs146338171	chr8:11246104-11246105	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs184616624	chr8:11246111-11246112	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561559335	chr8:11246113-11246114	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs529012756	chr8:11246179-11246180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187526643	chr8:11246206-11246207	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569129831	chr8:11246226-11246227	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533213004	chr8:11246330-11246331	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570929420	chr8:11246337-11246338	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541029533	chr8:11246418-11246419	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs892794	chr8:11246463-11246464	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192610884	chr8:11246473-11246474	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534322735	chr8:11246490-11246491	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs73663119	chr8:11246493-11246494	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs561131904	chr8:11246525-11246526	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs143684530	chr8:11246539-11246540	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs148115464	chr8:11246566-11246567	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142919985	chr8:11246592-11246593	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11244600-11248000	Enhancers	Pancreas	Pancrea
2	chr8:11244800-11245200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:11244800-11245600	Enhancers	NHEK	skin
4	chr8:11245000-11245200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:11245200-11247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:11245600-11247200	Weak transcription	NHEK	skin
7	chr8:11246200-11246600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr8:11246400-11246600	Enhancers	Gastric	stomach
9	chr8:11246600-11250200	Weak transcription	Gastric	stomach
10	chr8:11247200-11247400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:11247200-11248200	Bivalent Enhancer	NHEK	skin
12	chr8:11247400-11248200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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