Variant report

Variant	esv1847326
Chromosome Location	chr8:6824552-6827399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
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	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	ELF1	chr8:6826345-6826676	GM12878	blood:	n/a	n/a
3	MAFF	chr8:6825659-6825678	K562	blood:	n/a	n/a
4	MAFF	chr8:6825520-6825751	HepG2	liver:	n/a	chr8:6825656-6825674
5	MAFK	chr8:6825499-6825829	HepG2	liver:	n/a	n/a
6	MAFK	chr8:6825552-6825788	IMR90	lung:	n/a	n/a
7	MAFK	chr8:6825571-6825794	HepG2	liver:	n/a	n/a
8	MAFK	chr8:6825667-6825713	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr8:6824687-6824705	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr8:6824713-6824802	H1-hESC	embryonic stem cell:	n/a	n/a
11	SPI1	chr8:6826228-6826651	HL-60	blood:	n/a	n/a
12	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
13	USF2	chr8:6827155-6827365	HepG2	liver:	n/a	chr8:6827201-6827210 chr8:6827201-6827210 chr8:6827199-6827212

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6826392-6826442	HCT-116	colon:	n/a
2	chr8:6826392-6826442	PFSK-1	brain:	n/a
3	chr8:6826392-6826442	HCM	heart:	n/a
4	chr8:6826392-6826442	MCF10A-Er-Src	breast:	n/a
5	chr8:6826392-6826442	NHBE	bronchial:	n/a
6	chr8:6826392-6826442	Hepatocyte	liver:	n/a
7	chr8:6826392-6826442	A549	lung:	n/a
8	chr8:6826392-6826442	U87	brain:	n/a
9	chr8:6826392-6826442	HAEpiC	amniotic membrane:	n/a
10	chr8:6826392-6826442	HUVEC	blood vessel:	n/a
11	chr8:6826392-6826442	SK-N-SH_RA	brain:	n/a
12	chr8:6826392-6826442	GM12892	blood:	n/a
13	chr8:6826392-6826442	HMEC	breast:	n/a
14	chr8:6826392-6826442	SAEC	small airway:	n/a
15	chr8:6826392-6826442	GM12891	blood:	n/a
16	chr8:6826392-6826442	PrEC	prostate:	n/a
17	chr8:6826392-6826442	HRCEpiC	kidney:	n/a
18	chr8:6826392-6826442	T-47D	breast:	n/a
19	chr8:6826392-6826442	AG10803	skin:	n/a
20	chr8:6826392-6826442	HCF	heart:	n/a
21	chr8:6826392-6826442	GM19239	blood:	n/a
22	chr8:6826392-6826442	PANC-1	pancreas:	n/a
23	chr8:6826392-6826442	NH-A	brain:	n/a
24	chr8:6826392-6826442	BJ	skin:	n/a
25	chr8:6826392-6826442	IMR90	lung:	fetal
26	chr8:6826392-6826442	AG09309	skin:	n/a
27	chr8:6826392-6826442	HIPEpiC	eye:	n/a
28	chr8:6826392-6826442	Caco-2	colon:	n/a
29	chr8:6826392-6826442	H1-hESC	embryonic stem cell:	embryo
30	chr8:6826392-6826442	HEEpiC	esophagus:	n/a
31	chr8:6826392-6826442	CMK	blood:	n/a
32	chr8:6826392-6826442	ProgFib	skin:	n/a
33	chr8:6826392-6826442	HRE	kidney:	n/a
34	chr8:6826392-6826442	AoSMC	blood vessel:	n/a
35	chr8:6826392-6826442	BE2_C	brain:	n/a
36	chr8:6826392-6826442	SKMC	muscle:	n/a
37	chr8:6826392-6826442	HNPCEpiC	eye:	n/a
38	chr8:6826392-6826442	NT2-D1	testis:	n/a
39	chr8:6826392-6826442	Hela-S3	cervix:	n/a
40	chr8:6826392-6826442	AG04449	skin:	fetal
41	chr8:6826392-6826442	HRPEpiC	eye:	n/a
42	chr8:6826392-6826442	HCPEpiC	choroid plexus:	n/a
43	chr8:6826392-6826442	HL-60	blood:	n/a
44	chr8:6826392-6826442	SK-N-MC	brain:	n/a
45	chr8:6826392-6826442	ovcar-3	ovarian:	n/a
46	chr8:6826392-6826442	ECC-1	luminal epithelium:	n/a
47	chr8:6826392-6826442	K562	blood:	n/a
48	chr8:6826392-6826442	GM06990	blood:	n/a
49	chr8:6826392-6826442	NB4	blood:	n/a
50	chr8:6826392-6826442	LNCaP	prostate:	n/a

No data

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

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

No data

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

Extended variants
information (count: 233 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150945718	chr8:6824561-6824562	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs556810040	chr8:6824569-6824570	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs2738168	chr8:6824577-6824578	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140783473	chr8:6824582-6824583	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs2702908	chr8:6824614-6824615	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs13257112	chr8:6824631-6824632	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541460382	chr8:6824649-6824650	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150086443	chr8:6824652-6824653	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192925003	chr8:6824655-6824656	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545647215	chr8:6824656-6824657	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369373900	chr8:6824674-6824675	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562363869	chr8:6824678-6824679	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138540540	chr8:6824682-6824683	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548091370	chr8:6824683-6824684	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561691923	chr8:6824724-6824725	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182814408	chr8:6824746-6824747	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554803807	chr8:6824774-6824775	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547399957	chr8:6824778-6824779	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570415065	chr8:6824809-6824810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17381964	chr8:6824812-6824813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550348404	chr8:6824820-6824821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570270327	chr8:6824821-6824822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17078427	chr8:6824829-6824830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556092154	chr8:6824848-6824849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141408547	chr8:6824851-6824852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532266751	chr8:6824855-6824856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545879016	chr8:6824861-6824862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559093664	chr8:6824866-6824867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188729952	chr8:6824868-6824869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578014375	chr8:6824885-6824886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192849897	chr8:6824891-6824892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184265275	chr8:6824893-6824894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117613866	chr8:6824894-6824895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557428361	chr8:6824905-6824906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541671745	chr8:6824928-6824929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561628010	chr8:6824933-6824934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76698496	chr8:6824941-6824942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546519637	chr8:6824949-6824950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145142658	chr8:6824984-6824985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564109619	chr8:6824992-6824993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532845974	chr8:6824993-6824994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549892197	chr8:6825025-6825026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569814812	chr8:6825040-6825041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529486942	chr8:6825053-6825054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375932883	chr8:6825061-6825062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560046503	chr8:6825079-6825080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547871811	chr8:6825085-6825086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549631607	chr8:6825086-6825087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568774954	chr8:6825104-6825105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189460043	chr8:6825109-6825110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:15 , 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	chr8:6824000-6824800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr8:6824200-6824600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:6824400-6824800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr8:6824600-6824800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:6824600-6828200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:6824800-6829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:6826400-6826600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:6826400-6826800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr8:6826400-6826800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:6826400-6826800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:6826400-6826800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:6826400-6827000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr8:6826600-6826800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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