Variant report

Variant	esv3432989
Chromosome Location	chr8:1195845-1199543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 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	chr8:1197077-1197111	LNCaP	prostate:	n/a	n/a
3	CTCF	chr8:1197078-1197088	GM19239	blood:	n/a	n/a
4	MYC	chr8:1197004-1197047	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr8:1197038-1197106	MCF-7	breast:	n/a	n/a
6	MYC	chr8:1197055-1197188	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:1196853-1197288	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	chr8:1196859-1197069	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:1196796-1196829	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:1197016-1197138	Gliobla	brain:	n/a	n/a
13	SETDB1	chr8:1196951-1197403	U2OS	brain:	n/a	n/a
14	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	chr8:1197144-1197194	Hepatocyte	liver:	n/a
2	chr8:1197488-1197538	GM12891	blood:	n/a
3	chr8:1197488-1197538	ECC-1	luminal epithelium:	n/a
4	chr8:1197231-1197281	HCT-116	colon:	n/a
5	chr8:1197144-1197194	HepG2	liver:	n/a
6	chr8:1197144-1197194	Hela-S3	cervix:	n/a
7	chr8:1197488-1197538	AG04450	lung:	fetal
8	chr8:1198181-1198231	Hela-S3	cervix:	n/a
9	chr8:1198327-1198377	MCF10A-Er-Src	breast:	n/a
10	chr8:1197488-1197538	HRE	kidney:	n/a
11	chr8:1198327-1198377	CMK	blood:	n/a
12	chr8:1198181-1198231	GM12892	blood:	n/a
13	chr8:1197488-1197538	NHBE	bronchial:	n/a
14	chr8:1198327-1198377	SAEC	small airway:	n/a
15	chr8:1198327-1198377	HCF	heart:	n/a
16	chr8:1197488-1197538	SKMC	muscle:	n/a
17	chr8:1197488-1197538	HIPEpiC	eye:	n/a
18	chr8:1197488-1197538	BJ	skin:	n/a
19	chr8:1198181-1198231	CMK	blood:	n/a
20	chr8:1198181-1198231	NHBE	bronchial:	n/a
21	chr8:1197144-1197194	MCF10A-Er-Src	breast:	n/a
22	chr8:1198181-1198231	GM19239	blood:	n/a
23	chr8:1197488-1197538	H1-hESC	embryonic stem cell:	embryo
24	chr8:1198327-1198377	SK-N-MC	brain:	n/a
25	chr8:1197231-1197281	PrEC	prostate:	n/a
26	chr8:1197144-1197194	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:1198327-1198377	ProgFib	skin:	n/a
28	chr8:1197144-1197194	HCF	heart:	n/a
29	chr8:1197231-1197281	PFSK-1	brain:	n/a
30	chr8:1198327-1198377	HepG2	liver:	n/a
31	chr8:1197144-1197194	BJ	skin:	n/a
32	chr8:1197144-1197194	A549	lung:	n/a
33	chr8:1197144-1197194	H1-hESC	embryonic stem cell:	embryo
34	chr8:1198327-1198377	HCPEpiC	choroid plexus:	n/a
35	chr8:1197488-1197538	BE2_C	brain:	n/a
36	chr8:1197144-1197194	PFSK-1	brain:	n/a
37	chr8:1197488-1197538	AG04449	skin:	fetal
38	chr8:1198327-1198377	K562	blood:	n/a
39	chr8:1197144-1197194	HAEpiC	amniotic membrane:	n/a
40	chr8:1197144-1197194	BE2_C	brain:	n/a
41	chr8:1197231-1197281	HCPEpiC	choroid plexus:	n/a
42	chr8:1197144-1197194	HEEpiC	esophagus:	n/a
43	chr8:1198327-1198377	HAEpiC	amniotic membrane:	n/a
44	chr8:1198327-1198377	HPAEpiC	pulmonary alveolar:	n/a
45	chr8:1197231-1197281	HAEpiC	amniotic membrane:	n/a
46	chr8:1197488-1197538	HCT-116	colon:	n/a
47	chr8:1197231-1197281	RPTEC	kidney:	n/a
48	chr8:1197231-1197281	HL-60	blood:	n/a
49	chr8:1197488-1197538	HAEpiC	amniotic membrane:	n/a
50	chr8:1198181-1198231	HL-60	blood:	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: 429 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4976879	chr8:1195853-1195854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367571515	chr8:1195886-1195887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548316581	chr8:1195899-1195900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561944953	chr8:1195900-1195901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544569522	chr8:1195906-1195907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149664197	chr8:1195915-1195916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572404251	chr8:1195927-1195928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56300426	chr8:1195931-1195932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs60608888	chr8:1195932-1195933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548848354	chr8:1195949-1195950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386720589	chr8:1195966-1195967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58670973	chr8:1195967-1195968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186497771	chr8:1196031-1196032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74350235	chr8:1196053-1196054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112678368	chr8:1196059-1196060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368843198	chr8:1196076-1196077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62487832	chr8:1196078-1196079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189753832	chr8:1196090-1196091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547671462	chr8:1196123-1196124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567457008	chr8:1196124-1196125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182699219	chr8:1196131-1196132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556239184	chr8:1196159-1196160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60366492	chr8:1196164-1196165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73670692	chr8:1196170-1196171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558121677	chr8:1196191-1196192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571667472	chr8:1196192-1196193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142507378	chr8:1196214-1196215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561397029	chr8:1196237-1196238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574994921	chr8:1196239-1196240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188222860	chr8:1196262-1196263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563831199	chr8:1196313-1196314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532647022	chr8:1196331-1196332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57003739	chr8:1196337-1196338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559792054	chr8:1196341-1196342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75120940	chr8:1196349-1196350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs118035948	chr8:1196361-1196362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547735756	chr8:1196367-1196368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567413118	chr8:1196380-1196381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550144904	chr8:1196386-1196387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549708507	chr8:1196387-1196388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569773783	chr8:1196392-1196393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544926229	chr8:1196411-1196412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191363652	chr8:1196417-1196418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375018104	chr8:1196420-1196421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558183347	chr8:1196428-1196429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58415885	chr8:1196436-1196437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533193142	chr8:1196440-1196441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534288277	chr8:1196476-1196477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183285280	chr8:1196493-1196494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575012412	chr8:1196521-1196522	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: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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