Variant report

Variant	esv2522854
Chromosome Location	chr8:1197028-1199603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr8:1197352-1197554	GM12878	blood:	n/a	n/a
2	CTCF	chr8:1197078-1197088	GM19239	blood:	n/a	n/a
3	CTCF	chr8:1197077-1197111	LNCaP	prostate:	n/a	n/a
4	MYC	chr8:1197038-1197106	MCF-7	breast:	n/a	n/a
5	MYC	chr8:1197055-1197188	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr8:1197004-1197047	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:1196859-1197069	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:1197053-1197057	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:1197053-1197073	A549	lung:	n/a	n/a
10	POLR2A	chr8:1197016-1197138	Gliobla	brain:	n/a	n/a
11	POLR2A	chr8:1196853-1197288	MCF-7	breast:	n/a	n/a
12	SETDB1	chr8:1196951-1197403	U2OS	brain:	n/a	n/a
13	SIX5	chr8:1198183-1198460	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1197231-1197281	BJ	skin:	n/a
2	chr8:1198327-1198377	NB4	blood:	n/a
3	chr8:1197144-1197194	AG04450	lung:	fetal
4	chr8:1198327-1198377	IMR90	lung:	fetal
5	chr8:1198327-1198377	Hela-S3	cervix:	n/a
6	chr8:1197488-1197538	AG10803	skin:	n/a
7	chr8:1197488-1197538	PANC-1	pancreas:	n/a
8	chr8:1197231-1197281	AG04450	lung:	fetal
9	chr8:1197231-1197281	BE2_C	brain:	n/a
10	chr8:1198327-1198377	HCPEpiC	choroid plexus:	n/a
11	chr8:1197488-1197538	AG09319	gingival:	n/a
12	chr8:1197231-1197281	HIPEpiC	eye:	n/a
13	chr8:1198181-1198231	PFSK-1	brain:	n/a
14	chr8:1197488-1197538	GM12891	blood:	n/a
15	chr8:1197144-1197194	T-47D	breast:	n/a
16	chr8:1197488-1197538	HCT-116	colon:	n/a
17	chr8:1197231-1197281	GM12892	blood:	n/a
18	chr8:1198327-1198377	HCT-116	colon:	n/a
19	chr8:1198181-1198231	MCF10A-Er-Src	breast:	n/a
20	chr8:1197231-1197281	HAEpiC	amniotic membrane:	n/a
21	chr8:1198181-1198231	ProgFib	skin:	n/a
22	chr8:1197144-1197194	GM06990	blood:	n/a
23	chr8:1197231-1197281	CMK	blood:	n/a
24	chr8:1198327-1198377	GM12892	blood:	n/a
25	chr8:1198181-1198231	HEEpiC	esophagus:	n/a
26	chr8:1197144-1197194	LNCaP	prostate:	n/a
27	chr8:1197488-1197538	ECC-1	luminal epithelium:	n/a
28	chr8:1198181-1198231	AG10803	skin:	n/a
29	chr8:1198181-1198231	AG09319	gingival:	n/a
30	chr8:1198327-1198377	AG10803	skin:	n/a
31	chr8:1198181-1198231	U87	brain:	n/a
32	chr8:1197488-1197538	AG04450	lung:	fetal
33	chr8:1197144-1197194	NT2-D1	testis:	n/a
34	chr8:1198327-1198377	NH-A	brain:	n/a
35	chr8:1197231-1197281	AG10803	skin:	n/a
36	chr8:1198181-1198231	GM12878	blood:	n/a
37	chr8:1198327-1198377	SK-N-SH	brain:	n/a
38	chr8:1197231-1197281	SK-N-MC	brain:	n/a
39	chr8:1197144-1197194	MCF-7	breast:	n/a
40	chr8:1197231-1197281	HCM	heart:	n/a
41	chr8:1197144-1197194	PrEC	prostate:	n/a
42	chr8:1198327-1198377	MCF-7	breast:	n/a
43	chr8:1198327-1198377	HepG2	liver:	n/a
44	chr8:1197231-1197281	HCT-116	colon:	n/a
45	chr8:1198327-1198377	NT2-D1	testis:	n/a
46	chr8:1198181-1198231	PANC-1	pancreas:	n/a
47	chr8:1198181-1198231	K562	blood:	n/a
48	chr8:1198181-1198231	BE2_C	brain:	n/a
49	chr8:1197488-1197538	BE2_C	brain:	n/a
50	chr8:1197231-1197281	HPAEpiC	pulmonary alveolar:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP2-7	chr8:1197062-1197215	l_3529_chr8:1197061-1199999_testes

No data

Variant related genes	Relation type
ENSG00000254269	TF binding region
ENSG00000254160	TF binding region
ENSG00000254269	CpG island
ENSG00000254160	CpG island

Extended variants
information (count: 323 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:323 , 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	rs535581072	chr8:1197029-1197030	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs28414048	chr8:1197036-1197037	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs28639849	chr8:1197038-1197039	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs28474743	chr8:1197045-1197046	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs71512885	chr8:1197048-1197049	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74216580	chr8:1197060-1197061	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs66512266	chr8:1197065-1197066	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs71190708	chr8:1197070-1197071	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs370339112	chr8:1197072-1197073	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs575567804	chr8:1197076-1197077	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs112536917	chr8:1197081-1197082	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs71516162	chr8:1197084-1197085	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs544581015	chr8:1197085-1197086	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs374938805	chr8:1197088-1197089	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs369144501	chr8:1197095-1197096	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs60407487	chr8:1197098-1197099	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs62489171	chr8:1197110-1197111	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs36183539	chr8:1197116-1197117	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs368194923	chr8:1197119-1197120	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs111955570	chr8:1197130-1197131	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs545631556	chr8:1197131-1197132	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs113750180	chr8:1197134-1197135	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs62489173	chr8:1197135-1197136	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs112340008	chr8:1197137-1197138	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs36186713	chr8:1197147-1197148	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs36181567	chr8:1197165-1197166	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs67975971	chr8:1197168-1197169	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs367972506	chr8:1197174-1197175	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs36187659	chr8:1197179-1197180	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs201926588	chr8:1197183-1197184	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs200089202	chr8:1197184-1197185	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs36175862	chr8:1197186-1197187	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs5018394	chr8:1197193-1197194	ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs62489175	chr8:1197196-1197197	ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs62489176	chr8:1197208-1197209	ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs62489177	chr8:1197214-1197215	ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs143735419	chr8:1197216-1197217	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528240478	chr8:1197218-1197219	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs62489178	chr8:1197227-1197228	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs199822846	chr8:1197231-1197232	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs5018393	chr8:1197232-1197233	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs112892851	chr8:1197234-1197235	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs111420998	chr8:1197241-1197242	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs113479025	chr8:1197244-1197245	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs376089840	chr8:1197247-1197248	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs548000254	chr8:1197267-1197268	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs374833904	chr8:1197271-1197272	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs36134480	chr8:1197272-1197273	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs34252614	chr8:1197283-1197284	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530456718	chr8:1197285-1197286	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1195200-1197200	Enhancers	Fetal Brain Male	brain
2	chr8:1196800-1197200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:1196800-1197200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
4	chr8:1196800-1197400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:1196800-1197400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1196800-1197400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr8:1197000-1197200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:1197000-1197200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
9	chr8:1197000-1197200	ZNF genes & repeats	Gastric	stomach
10	chr8:1197000-1197200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
11	chr8:1197000-1197400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr8:1197000-1197400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:1197000-1197400	ZNF genes & repeats	Pancreas	Pancrea
14	chr8:1197200-1198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:1197200-1199200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:1197200-1201800	Weak transcription	Gastric	stomach
17	chr8:1197400-1201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:1197400-1202000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:1197400-1202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:1198600-1199200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:1199000-1201600	Weak transcription	Pancreas	Pancrea
22	chr8:1199200-1199400	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:1199200-1200200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:1199400-1201800	Weak transcription	H9 Cell Line	embryonic stem cell

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