Variant report

Variant	esv3509648
Chromosome Location	chr8:1204295-1207093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:1204866-1205001	MCF-7	breast:	n/a	n/a
2	GABPA	chr8:1206148-1206359	Hela-S3	cervix:	n/a	n/a
3	KAP1	chr8:1205485-1206543	HEK293	kidney:	n/a	n/a
4	MYC	chr8:1204922-1204929	MCF-7	breast:	n/a	n/a
5	MYC	chr8:1204893-1204919	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:1204893-1204951	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:1204952-1204953	MCF-7	breast:	n/a	n/a
8	SETDB1	chr8:1205635-1205883	U2OS	brain:	n/a	n/a
9	SRF	chr8:1205879-1206099	GM12878	blood:	n/a	n/a
10	SRF	chr8:1206145-1206349	GM12878	blood:	n/a	n/a
11	ZNF274	chr8:1205975-1206336	GM08714	blood:	n/a	n/a
12	ZNF274	chr8:1205693-1206334	NT2-D1	testis:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1204530-1204580	NT2-D1	testis:	n/a
2	chr8:1204483-1204533	IMR90	lung:	fetal
3	chr8:1204483-1204533	HEEpiC	esophagus:	n/a
4	chr8:1204483-1204533	T-47D	breast:	n/a
5	chr8:1204530-1204580	HIPEpiC	eye:	n/a
6	chr8:1204483-1204533	A549	lung:	n/a
7	chr8:1204530-1204580	HAEpiC	amniotic membrane:	n/a
8	chr8:1204530-1204580	GM06990	blood:	n/a
9	chr8:1204483-1204533	GM06990	blood:	n/a
10	chr8:1204483-1204533	HRE	kidney:	n/a
11	chr8:1204530-1204580	AG04450	lung:	fetal
12	chr8:1204483-1204533	AG04449	skin:	fetal
13	chr8:1204530-1204580	GM12878	blood:	n/a
14	chr8:1204530-1204580	HEEpiC	esophagus:	n/a
15	chr8:1204483-1204533	NT2-D1	testis:	n/a
16	chr8:1204483-1204533	AG09309	skin:	n/a
17	chr8:1204530-1204580	AG04449	skin:	fetal
18	chr8:1204483-1204533	NB4	blood:	n/a
19	chr8:1204530-1204580	GM19239	blood:	n/a
20	chr8:1204483-1204533	BJ	skin:	n/a
21	chr8:1204530-1204580	SK-N-SH	brain:	n/a
22	chr8:1204483-1204533	AG10803	skin:	n/a
23	chr8:1204530-1204580	HRCEpiC	kidney:	n/a
24	chr8:1204483-1204533	MCF10A-Er-Src	breast:	n/a
25	chr8:1204530-1204580	AG09309	skin:	n/a
26	chr8:1204483-1204533	SK-N-MC	brain:	n/a
27	chr8:1204483-1204533	SAEC	small airway:	n/a
28	chr8:1204530-1204580	BJ	skin:	n/a
29	chr8:1204530-1204580	NB4	blood:	n/a
30	chr8:1204483-1204533	HAEpiC	amniotic membrane:	n/a
31	chr8:1204530-1204580	NH-A	brain:	n/a
32	chr8:1204530-1204580	HRE	kidney:	n/a
33	chr8:1204483-1204533	HCPEpiC	choroid plexus:	n/a
34	chr8:1204483-1204533	HEK293	kidney:	embryo
35	chr8:1204530-1204580	H1-hESC	embryonic stem cell:	embryo
36	chr8:1204530-1204580	PFSK-1	brain:	n/a
37	chr8:1204530-1204580	Hela-S3	cervix:	n/a
38	chr8:1204483-1204533	HNPCEpiC	eye:	n/a
39	chr8:1204483-1204533	Hela-S3	cervix:	n/a
40	chr8:1204530-1204580	GM12892	blood:	n/a
41	chr8:1204483-1204533	SK-N-SH_RA	brain:	n/a
42	chr8:1204530-1204580	AoSMC	blood vessel:	n/a
43	chr8:1204530-1204580	U87	brain:	n/a
44	chr8:1204530-1204580	HMEC	breast:	n/a
45	chr8:1204530-1204580	SK-N-MC	brain:	n/a
46	chr8:1204530-1204580	CMK	blood:	n/a
47	chr8:1204530-1204580	HRPEpiC	eye:	n/a
48	chr8:1204483-1204533	GM12892	blood:	n/a
49	chr8:1204483-1204533	HMEC	breast:	n/a
50	chr8:1204530-1204580	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000254269	TF binding region
ENSG00000254269	CpG island

Extended variants
information (count: 311 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549270710	chr8:1204301-1204302	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs35112756	chr8:1204321-1204322	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs556853961	chr8:1204326-1204327	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs551212833	chr8:1204335-1204336	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs148144391	chr8:1204339-1204340	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs6993471	chr8:1204378-1204379	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182453335	chr8:1204383-1204384	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs4976868	chr8:1204391-1204392	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536572969	chr8:1204403-1204404	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs4976880	chr8:1204404-1204405	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576595020	chr8:1204419-1204420	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs142415172	chr8:1204435-1204436	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs558823552	chr8:1204440-1204441	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs78057119	chr8:1204448-1204449	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs376633166	chr8:1204456-1204457	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs371524706	chr8:1204457-1204458	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs373394271	chr8:1204467-1204468	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs540330128	chr8:1204471-1204472	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs561289315	chr8:1204472-1204473	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs13257441	chr8:1204486-1204487	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs187972370	chr8:1204501-1204502	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs562777272	chr8:1204516-1204517	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs564507217	chr8:1204522-1204523	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs528916596	chr8:1204528-1204529	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs200058952	chr8:1204539-1204540	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs4976869	chr8:1204545-1204546	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564892179	chr8:1204549-1204550	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs527391188	chr8:1204559-1204560	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs113232984	chr8:1204560-1204561	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs191245808	chr8:1204571-1204572	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs540797052	chr8:1204574-1204575	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs183049505	chr8:1204587-1204588	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs73670697	chr8:1204595-1204596	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550236878	chr8:1204596-1204597	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs13263834	chr8:1204600-1204601	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs535356499	chr8:1204630-1204631	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538922340	chr8:1204666-1204667	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76821632	chr8:1204676-1204677	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78085923	chr8:1204683-1204684	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151144519	chr8:1204689-1204690	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377070358	chr8:1204690-1204691	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535138205	chr8:1204708-1204709	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555081550	chr8:1204740-1204741	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574912186	chr8:1204744-1204745	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371109911	chr8:1204762-1204763	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201864758	chr8:1204766-1204767	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145968770	chr8:1204775-1204776	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139886959	chr8:1204783-1204784	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576297845	chr8:1204798-1204799	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192200307	chr8:1204812-1204813	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1200600-1206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1202600-1207200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:1202600-1209200	Weak transcription	Fetal Lung	lung
4	chr8:1202800-1210800	Weak transcription	Gastric	stomach
5	chr8:1203800-1204600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr8:1203800-1205000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:1204000-1205000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:1204000-1205200	Enhancers	Brain Angular Gyrus	brain
9	chr8:1204200-1205000	Enhancers	Brain Anterior Caudate	brain
10	chr8:1205000-1209000	Weak transcription	Brain Anterior Caudate	brain
11	chr8:1205600-1205800	Enhancers	Brain Germinal Matrix	brain
12	chr8:1205600-1205800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:1206000-1206200	Enhancers	Right Ventricle	heart
14	chr8:1206000-1208400	Weak transcription	Brain Germinal Matrix	brain
15	chr8:1206400-1207000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:1207000-1210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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