Variant report

Variant	esv1799660
Chromosome Location	chr8:107679505-107689755
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	ATF2	chr8:107679899-107681267	GM12878	blood:	n/a	n/a
2	ATF2	chr8:107679984-107681167	GM12878	blood:	n/a	n/a
3	ATF2	chr8:107682037-107682595	GM12878	blood:	n/a	n/a
4	BATF	chr8:107680706-107681133	GM12878	blood:	n/a	n/a
5	BATF	chr8:107680198-107680577	GM12878	blood:	n/a	n/a
6	BATF	chr8:107682117-107682451	GM12878	blood:	n/a	n/a
7	BCL11A	chr8:107682174-107682418	GM12878	blood:	n/a	n/a
8	BCL11A	chr8:107682100-107682488	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:107680119-107680471	GM12878	blood:	n/a	n/a
10	BCLAF1	chr8:107679899-107680383	GM12878	blood:	n/a	n/a
11	BCLAF1	chr8:107682005-107682528	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:107680082-107680725	GM12878	blood:	n/a	n/a
13	CBX3	chr8:107685992-107686375	K562	blood:	n/a	n/a
14	CBX3	chr8:107685965-107686413	K562	blood:	n/a	n/a
15	CEBPB	chr8:107679930-107681336	GM12878	blood:	n/a	n/a
16	CREB1	chr8:107679992-107681380	GM12878	blood:	n/a	n/a
17	CTCF	chr8:107682291-107682383	GM12878	blood:	n/a	n/a
18	CUX1	chr8:107682010-107682332	GM12878	blood:	n/a	n/a
19	CUX1	chr8:107680075-107680297	GM12878	blood:	n/a	n/a
20	EBF1	chr8:107680071-107680406	GM12878	blood:	n/a	n/a
21	EBF1	chr8:107682108-107682426	GM12878	blood:	n/a	n/a
22	EBF1	chr8:107682097-107682623	GM12878	blood:	n/a	n/a
23	EP300	chr8:107682136-107682485	GM12878	blood:	n/a	n/a
24	EP300	chr8:107688668-107688700	GM12878	blood:	n/a	n/a
25	EP300	chr8:107680117-107681195	GM12878	blood:	n/a	n/a
26	EP300	chr8:107687308-107687398	GM12878	blood:	n/a	n/a
27	EP300	chr8:107682170-107682474	GM12878	blood:	n/a	n/a
28	EP300	chr8:107680068-107681038	GM12878	blood:	n/a	chr8:107680110-107680123
29	EP300	chr8:107680146-107680377	GM12878	blood:	n/a	n/a
30	FOXM1	chr8:107682050-107682490	GM12878	blood:	n/a	n/a
31	FOXM1	chr8:107680670-107681393	GM12878	blood:	n/a	n/a
32	FOXM1	chr8:107680010-107680610	GM12878	blood:	n/a	n/a
33	GATA3	chr8:107679217-107679908	MCF-7	breast:	n/a	n/a
34	GATA3	chr8:107679369-107679956	MCF-7	breast:	n/a	n/a
35	IKZF1	chr8:107680685-107681054	GM12878	blood:	n/a	n/a
36	IRF4	chr8:107682060-107682509	GM12878	blood:	n/a	n/a
37	IRF4	chr8:107682079-107682451	GM12878	blood:	n/a	n/a
38	KAP1	chr8:107685791-107686745	K562	blood:	n/a	n/a
39	KAP1	chr8:107688324-107688754	HEK293	kidney:	n/a	n/a
40	KAP1	chr8:107685925-107686366	HEK293	kidney:	n/a	n/a
41	MAFK	chr8:107688311-107688403	HepG2	liver:	n/a	n/a
42	MAFK	chr8:107681032-107681056	HepG2	liver:	n/a	n/a
43	MAZ	chr8:107680001-107680624	GM12878	blood:	n/a	n/a
44	MEF2A	chr8:107679820-107680554	GM12878	blood:	n/a	chr8:107679923-107679938 chr8:107679924-107679939 chr8:107679917-107679932 chr8:107679945-107679960 chr8:107679948-107679957 chr8:107679944-107679960 chr8:107679945-107679961
45	MEF2A	chr8:107679816-107680652	GM12878	blood:	n/a	chr8:107679923-107679938 chr8:107679924-107679939 chr8:107679917-107679932 chr8:107679945-107679960 chr8:107679948-107679957 chr8:107679944-107679960 chr8:107679945-107679961
46	MEF2A	chr8:107680567-107681122	GM12878	blood:	n/a	chr8:107680657-107680665
47	MEF2A	chr8:107682048-107682510	GM12878	blood:	n/a	n/a
48	MEF2C	chr8:107679930-107680644	GM12878	blood:	n/a	chr8:107679945-107679960 chr8:107679948-107679957 chr8:107679944-107679960 chr8:107679945-107679961
49	MTA3	chr8:107679970-107680536	GM12878	blood:	n/a	n/a
50	MTA3	chr8:107680577-107681224	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:107685113..107687431-chr8:107693590..107695570,2	K562	blood:
2	chr8:107678069..107680134-chr8:107683675..107685585,2	K562	blood:
3	chr8:107679723..107681395-chr8:107684179..107686589,2	MCF-7	breast:
4	chr8:107669240..107670746-chr8:107683326..107685917,3	MCF-7	breast:
5	chr8:107665950..107668451-chr8:107679150..107681504,2	K562	blood:
6	chr8:107686163..107688960-chr8:107711945..107714088,2	K562	blood:
7	chr8:107679723..107681395-chr8:107684179..107686589,2	MCF-7	breast:
8	chr8:107680913..107683388-chr8:107685068..107687950,2	K562	blood:
9	chr8:107680913..107683388-chr8:107685068..107687950,2	K562	blood:
10	chr8:107667927..107672716-chr8:107687873..107691651,4	MCF-7	breast:
11	chr8:107677870..107679876-chr8:107686793..107689768,2	MCF-7	breast:
12	chr8:107678069..107680134-chr8:107683675..107685585,2	K562	blood:
13	chr8:107682179..107684259-chr8:107690430..107692278,2	MCF-7	breast:
14	chr8:107675484..107677313-chr8:107687976..107690913,2	K562	blood:
15	chr8:107677870..107679876-chr8:107686793..107689768,2	MCF-7	breast:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000164830	chromatin interactions
ENSG00000253582	chromatin interactions

Extended variants
information (count: 393 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116411370	chr8:107679569-107679570	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536759712	chr8:107679577-107679578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567777759	chr8:107679581-107679582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569977052	chr8:107679583-107679584	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564454158	chr8:107679599-107679600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190634531	chr8:107679602-107679603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183340942	chr8:107679638-107679639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562208977	chr8:107679662-107679663	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144756887	chr8:107679668-107679669	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547798176	chr8:107679689-107679690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566107919	chr8:107679742-107679743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142826715	chr8:107679758-107679759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188554852	chr8:107679789-107679790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192739174	chr8:107679814-107679815	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs72682841	chr8:107679915-107679916	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs112793569	chr8:107679916-107679917	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537205973	chr8:107679937-107679938	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs702776	chr8:107679944-107679945	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78164596	chr8:107679949-107679950	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544018597	chr8:107679975-107679976	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534446488	chr8:107680016-107680017	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs74634850	chr8:107680033-107680034	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576650476	chr8:107680058-107680059	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs377677433	chr8:107680084-107680085	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545657973	chr8:107680098-107680099	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs702777	chr8:107680100-107680101	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183068484	chr8:107680123-107680124	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573117779	chr8:107680164-107680165	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112420506	chr8:107680168-107680169	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201915423	chr8:107680191-107680192	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs3101533	chr8:107680261-107680262	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562179519	chr8:107680283-107680284	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs529368347	chr8:107680295-107680296	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4452777	chr8:107680327-107680328	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541512192	chr8:107680347-107680348	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377531073	chr8:107680396-107680397	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561373137	chr8:107680407-107680408	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530174846	chr8:107680422-107680423	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559903651	chr8:107680461-107680462	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533327986	chr8:107680506-107680507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551804531	chr8:107680622-107680623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550297598	chr8:107680625-107680626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530744663	chr8:107680682-107680683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28921384	chr8:107680719-107680720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs16875002	chr8:107680748-107680749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567319150	chr8:107680765-107680766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534523680	chr8:107680799-107680800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532739494	chr8:107680827-107680828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559882700	chr8:107680862-107680863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191388287	chr8:107680900-107680901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:107671200-107697200	Weak transcription	HSMM	muscle
3	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
4	chr8:107672400-107685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:107672600-107681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:107672600-107682200	Weak transcription	Aorta	Aorta
8	chr8:107672600-107683600	Weak transcription	Hela-S3	cervix
9	chr8:107672600-107684400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:107672800-107680600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
16	chr8:107673000-107680600	Weak transcription	Small Intestine	intestine
17	chr8:107673000-107684800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:107673400-107680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:107674400-107682000	Weak transcription	Adipose Nuclei	Adipose
20	chr8:107674400-107685800	Weak transcription	Fetal Stomach	stomach
21	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:107675000-107680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:107676200-107685800	Weak transcription	Esophagus	oesophagus
24	chr8:107676200-107685800	Weak transcription	Gastric	stomach
25	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
26	chr8:107676400-107681600	Weak transcription	HepG2	liver
27	chr8:107676400-107682000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:107676400-107682200	Weak transcription	Right Atrium	heart
29	chr8:107676600-107682200	Weak transcription	K562	blood
30	chr8:107676800-107680600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:107676800-107682600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:107677400-107679800	Enhancers	Primary B cells from cord blood	blood
33	chr8:107677600-107680800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:107677600-107682200	Weak transcription	Ovary	ovary
35	chr8:107677600-107685600	Weak transcription	Fetal Lung	lung
36	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
37	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:107677800-107680200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:107678000-107680400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:107678200-107681000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:107678200-107681000	Weak transcription	Liver	Liver
42	chr8:107678400-107680000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:107678400-107682800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr8:107678600-107683000	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:107678800-107679800	Flanking Active TSS	GM12878-XiMat	blood
46	chr8:107679000-107680200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:107679000-107680400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:107679000-107682000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:107679200-107679600	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:107679200-107681200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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