Variant report

Variant	esv1826300
Chromosome Location	chr8:6825582-6827965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr8:6825706-6825903	K562	blood:	n/a	chr8:6825850-6825859 chr8:6825848-6825857 chr8:6825847-6825860 chr8:6825849-6825858 chr8:6825843-6825864 chr8:6825849-6825858
2	CTCF	chr8:6827929-6828105	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr8:6827960-6828110	K562	blood:	n/a	n/a
4	CTCF	chr8:6827880-6828030	HEK293	kidney:	n/a	chr8:6827881-6827890 chr8:6827923-6827930
5	ELF1	chr8:6826345-6826676	GM12878	blood:	n/a	n/a
6	MAFF	chr8:6825659-6825678	K562	blood:	n/a	n/a
7	MAFF	chr8:6825520-6825751	HepG2	liver:	n/a	chr8:6825656-6825674
8	MAFK	chr8:6825667-6825713	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr8:6825571-6825794	HepG2	liver:	n/a	n/a
10	MAFK	chr8:6825499-6825829	HepG2	liver:	n/a	n/a
11	MAFK	chr8:6825552-6825788	IMR90	lung:	n/a	n/a
12	RAD21	chr8:6827832-6828150	H1-hESC	embryonic stem cell:	n/a	n/a
13	SPI1	chr8:6826228-6826651	HL-60	blood:	n/a	n/a
14	USF2	chr8:6825797-6825900	Hela-S3	cervix:	n/a	chr8:6825850-6825859 chr8:6825848-6825857 chr8:6825847-6825860 chr8:6825849-6825858 chr8:6825843-6825864 chr8:6825847-6825858 chr8:6825849-6825858
15	USF2	chr8:6827155-6827365	HepG2	liver:	n/a	chr8:6827201-6827210 chr8:6827201-6827210 chr8:6827199-6827212

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6827800-6827850	ECC-1	luminal epithelium:	n/a
2	chr8:6827800-6827850	HRPEpiC	eye:	n/a
3	chr8:6826392-6826442	HAEpiC	amniotic membrane:	n/a
4	chr8:6826392-6826442	NT2-D1	testis:	n/a
5	chr8:6827814-6827864	A549	lung:	n/a
6	chr8:6827814-6827864	NH-A	brain:	n/a
7	chr8:6826392-6826442	SKMC	muscle:	n/a
8	chr8:6827814-6827864	U87	brain:	n/a
9	chr8:6827800-6827850	Hepatocyte	liver:	n/a
10	chr8:6827800-6827850	ProgFib	skin:	n/a
11	chr8:6827814-6827864	H1-hESC	embryonic stem cell:	embryo
12	chr8:6827814-6827864	HUVEC	blood vessel:	n/a
13	chr8:6827814-6827864	HCF	heart:	n/a
14	chr8:6827814-6827864	HCM	heart:	n/a
15	chr8:6827800-6827850	ovcar-3	ovarian:	n/a
16	chr8:6826392-6826442	BE2_C	brain:	n/a
17	chr8:6826392-6826442	NH-A	brain:	n/a
18	chr8:6826392-6826442	PrEC	prostate:	n/a
19	chr8:6826392-6826442	ovcar-3	ovarian:	n/a
20	chr8:6827814-6827864	GM19239	blood:	n/a
21	chr8:6826392-6826442	GM19239	blood:	n/a
22	chr8:6827800-6827850	HNPCEpiC	eye:	n/a
23	chr8:6827800-6827850	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:6827814-6827864	GM06990	blood:	n/a
25	chr8:6827814-6827864	BJ	skin:	n/a
26	chr8:6827800-6827850	NHBE	bronchial:	n/a
27	chr8:6827814-6827864	MCF-7	breast:	n/a
28	chr8:6826392-6826442	Hepatocyte	liver:	n/a
29	chr8:6827814-6827864	HIPEpiC	eye:	n/a
30	chr8:6826392-6826442	A549	lung:	n/a
31	chr8:6827800-6827850	HepG2	liver:	n/a
32	chr8:6827814-6827864	LNCaP	prostate:	n/a
33	chr8:6826392-6826442	SK-N-SH_RA	brain:	n/a
34	chr8:6827800-6827850	HEEpiC	esophagus:	n/a
35	chr8:6827814-6827864	ECC-1	luminal epithelium:	n/a
36	chr8:6826392-6826442	K562	blood:	n/a
37	chr8:6827800-6827850	HCF	heart:	n/a
38	chr8:6827800-6827850	AoSMC	blood vessel:	n/a
39	chr8:6827800-6827850	GM12878	blood:	n/a
40	chr8:6827800-6827850	NH-A	brain:	n/a
41	chr8:6826392-6826442	Hela-S3	cervix:	n/a
42	chr8:6827814-6827864	AG09319	gingival:	n/a
43	chr8:6826392-6826442	AoSMC	blood vessel:	n/a
44	chr8:6827814-6827864	AoSMC	blood vessel:	n/a
45	chr8:6827800-6827850	MCF-7	breast:	n/a
46	chr8:6827800-6827850	IMR90	lung:	fetal
47	chr8:6827814-6827864	HEEpiC	esophagus:	n/a
48	chr8:6827814-6827864	GM12891	blood:	n/a
49	chr8:6827800-6827850	HCT-116	colon:	n/a
50	chr8:6827800-6827850	PFSK-1	brain:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA1-1	chr8:6825663-6825775	NONHSAT124803
2	lnc-DEFA1-1	chr8:6825663-6825769	NONHSAT124802
3	lnc-DEFA1-1	chr8:6826461-6826635	NONHSAT124803
4	lnc-DEFA1-1	chr8:6826452-6826635	NONHSAT124802

No data

Variant related genes	Relation type
DEFA10P	TF binding region
DEFA10P	CpG island

Extended variants
information (count: 194 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140749438	chr8:6825616-6825617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181444926	chr8:6825629-6825630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184631703	chr8:6825655-6825656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143020111	chr8:6825658-6825659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531128559	chr8:6825661-6825662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117582969	chr8:6825671-6825672	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs567330841	chr8:6825678-6825679	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536285071	chr8:6825679-6825680	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs547066163	chr8:6825680-6825681	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs76176806	chr8:6825688-6825689	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs189750721	chr8:6825718-6825719	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs181855629	chr8:6825722-6825723	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs186047291	chr8:6825725-6825726	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535313882	chr8:6825740-6825741	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs115726153	chr8:6825743-6825744	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs372482670	chr8:6825757-6825758	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs36110831	chr8:6825770-6825771	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs139202523	chr8:6825785-6825786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542306678	chr8:6825794-6825795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559379377	chr8:6825810-6825811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572888528	chr8:6825852-6825853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149920893	chr8:6825853-6825854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549610135	chr8:6825854-6825855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531066105	chr8:6825863-6825864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13278390	chr8:6825877-6825878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13270884	chr8:6825885-6825886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13267882	chr8:6825891-6825892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546710375	chr8:6825897-6825898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73195997	chr8:6825913-6825914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566922761	chr8:6825958-6825959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532520579	chr8:6825960-6825961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13278672	chr8:6825975-6825976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549190813	chr8:6825996-6825997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13271399	chr8:6825998-6825999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13270339	chr8:6826010-6826011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191225676	chr8:6826012-6826013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13271426	chr8:6826025-6826026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2738144	chr8:6826043-6826044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13270374	chr8:6826050-6826051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552712817	chr8:6826056-6826057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13278935	chr8:6826057-6826058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181781851	chr8:6826060-6826061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544784192	chr8:6826074-6826075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71525777	chr8:6826081-6826082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558268919	chr8:6826084-6826085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2978947	chr8:6826089-6826090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148631801	chr8:6826094-6826095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71511146	chr8:6826099-6826100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71535994	chr8:6826115-6826116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71525778	chr8:6826140-6826141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	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
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	21865298	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6794600-6829200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:6822800-6830000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:6824600-6828200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:6824800-6829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:6826400-6826600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:6826400-6826800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr8:6826400-6826800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:6826400-6826800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:6826400-6826800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:6826400-6827000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr8:6826600-6826800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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