Variant report

Variant	esv1844809
Chromosome Location	chr8:6835213-6882130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:428)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:6882109-6882181	A549	lung:	n/a	n/a
2	CEBPB	chr8:6872820-6873018	HepG2	liver:	n/a	chr8:6872838-6872849 chr8:6872837-6872848
3	CTCF	chr8:6876641-6876732	GM13976	blood:	n/a	n/a
4	CTCF	chr8:6870668-6870718	Lung_OC	lung:	n/a	n/a
5	CTCF	chr8:6863352-6863389	GM13977	blood:	n/a	n/a
6	CTCF	chr8:6841333-6841432	GM10248	blood:	n/a	n/a
7	CTCF	chr8:6875862-6875906	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr8:6850725-6850800	Lung_OC	lung:	n/a	n/a
9	CTCF	chr8:6868755-6868819	GM13976	blood:	n/a	n/a
10	GABPA	chr8:6878604-6878734	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:6838321-6838399	Gliobla	brain:	n/a	n/a
12	POLR2A	chr8:6845727-6845752	MCF-7	breast:	n/a	n/a
13	POLR2A	chr8:6857571-6857648	Gliobla	brain:	n/a	n/a
14	POLR2A	chr8:6845770-6845778	MCF-7	breast:	n/a	n/a
15	SPI1	chr8:6861083-6861304	GM12891	blood:	n/a	chr8:6861225-6861238
16	SPI1	chr8:6847171-6847347	K562	blood:	n/a	n/a
17	SPI1	chr8:6875751-6875885	K562	blood:	n/a	chr8:6875835-6875848
18	SPI1	chr8:6866274-6866450	K562	blood:	n/a	n/a
19	SPI1	chr8:6837542-6837676	K562	blood:	n/a	chr8:6837626-6837639
20	SPI1	chr8:6841978-6842199	GM12891	blood:	n/a	chr8:6842120-6842133
21	SPI1	chr8:6856652-6856786	K562	blood:	n/a	chr8:6856736-6856749
22	TEAD4	chr8:6843230-6843570	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr8:6862289-6862645	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr8:6862289-6862677	H1-hESC	embryonic stem cell:	n/a	n/a
25	TEAD4	chr8:6843178-6843665	H1-hESC	embryonic stem cell:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6876155-6876205	HRCEpiC	kidney:	n/a
2	chr8:6876155-6876205	HRCEpiC	kidney:	n/a
3	chr8:6876781-6876831	ECC-1	luminal epithelium:	n/a
4	chr8:6876781-6876831	HNPCEpiC	eye:	n/a
5	chr8:6876155-6876205	HepG2	liver:	n/a
6	chr8:6838024-6838074	AG09309	skin:	n/a
7	chr8:6875661-6875711	ProgFib	skin:	n/a
8	chr8:6873754-6873804	MCF-7	breast:	n/a
9	chr8:6873754-6873804	NHBE	bronchial:	n/a
10	chr8:6837932-6837982	LNCaP	prostate:	n/a
11	chr8:6876781-6876831	HIPEpiC	eye:	n/a
12	chr8:6876781-6876831	NHBE	bronchial:	n/a
13	chr8:6837932-6837982	CMK	blood:	n/a
14	chr8:6876155-6876205	BJ	skin:	n/a
15	chr8:6876695-6876745	GM12878	blood:	n/a
16	chr8:6875661-6875711	HNPCEpiC	eye:	n/a
17	chr8:6876155-6876205	HL-60	blood:	n/a
18	chr8:6876155-6876205	NHBE	bronchial:	n/a
19	chr8:6876695-6876745	Jurkat	blood:	n/a
20	chr8:6837932-6837982	K562	blood:	n/a
21	chr8:6876781-6876831	T-47D	breast:	n/a
22	chr8:6876695-6876745	GM12892	blood:	n/a
23	chr8:6873754-6873804	SK-N-MC	brain:	n/a
24	chr8:6876781-6876831	H1-hESC	embryonic stem cell:	embryo
25	chr8:6876695-6876745	ovcar-3	ovarian:	n/a
26	chr8:6875661-6875711	Caco-2	colon:	n/a
27	chr8:6838024-6838074	PrEC	prostate:	n/a
28	chr8:6838024-6838074	HIPEpiC	eye:	n/a
29	chr8:6873754-6873804	T-47D	breast:	n/a
30	chr8:6875661-6875711	HAEpiC	amniotic membrane:	n/a
31	chr8:6876781-6876831	MCF-7	breast:	n/a
32	chr8:6837932-6837982	HRPEpiC	eye:	n/a
33	chr8:6876781-6876831	SKMC	muscle:	n/a
34	chr8:6876781-6876831	ovcar-3	ovarian:	n/a
35	chr8:6838024-6838074	SK-N-SH	brain:	n/a
36	chr8:6875661-6875711	PFSK-1	brain:	n/a
37	chr8:6873754-6873804	HRCEpiC	kidney:	n/a
38	chr8:6838024-6838074	Hela-S3	cervix:	n/a
39	chr8:6875661-6875711	AG04449	skin:	fetal
40	chr8:6876695-6876745	NB4	blood:	n/a
41	chr8:6876155-6876205	SK-N-SH_RA	brain:	n/a
42	chr8:6837932-6837982	NHBE	bronchial:	n/a
43	chr8:6876695-6876745	AG09319	gingival:	n/a
44	chr8:6876781-6876831	HRCEpiC	kidney:	n/a
45	chr8:6837932-6837982	U87	brain:	n/a
46	chr8:6873754-6873804	PrEC	prostate:	n/a
47	chr8:6876695-6876745	HepG2	liver:	n/a
48	chr8:6875661-6875711	HIPEpiC	eye:	n/a
49	chr8:6875661-6875711	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:6873754-6873804	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6876740..6878297-chr8:6880024..6881649,2	K562	blood:
2	chr8:6876740..6878297-chr8:6880024..6881649,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA1B-1	chr8:6847181-6847243	NONHSAT124804
2	lnc-DEFA1B-1	chr8:6845622-6845808	NONHSAT124804
3	lnc-DEFA1B-1	chr8:6844700-6844945	NONHSAT124804

No data

Variant related genes	Relation type
DEFA1B	TF binding region
DEFT1P2	TF binding region
DEFA1	TF binding region
DEFA3	TF binding region
DEFT1P	TF binding region
DEFA1B	CpG island
DEFT1P2	CpG island
DEFA1	CpG island
DEFA3	CpG island
DEFT1P	CpG island

Extended variants
information (count: 960 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141781171	chr8:6835230-6835231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62489961	chr8:6835488-6835489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138578268	chr8:6835514-6835515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141678943	chr8:6835569-6835570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146202644	chr8:6835593-6835594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139117006	chr8:6835642-6835643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142302065	chr8:6835758-6835759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113515472	chr8:6835817-6835818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200133465	chr8:6836028-6836029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144845636	chr8:6836297-6836298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62489962	chr8:6836585-6836586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148597574	chr8:6836896-6836897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142963543	chr8:6837035-6837036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58218136	chr8:6837160-6837161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201913807	chr8:6837168-6837169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2472240	chr8:6837233-6837234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533694536	chr8:6837263-6837264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553572871	chr8:6837266-6837267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576693378	chr8:6837268-6837269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200245128	chr8:6837272-6837273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545676430	chr8:6837277-6837278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562668563	chr8:6837284-6837285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149807494	chr8:6837290-6837291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58955451	chr8:6837331-6837332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576672015	chr8:6837336-6837337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541499566	chr8:6837343-6837344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377457505	chr8:6837366-6837367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371116923	chr8:6837381-6837382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56093195	chr8:6837431-6837432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59087747	chr8:6837440-6837441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60709580	chr8:6837452-6837453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59420747	chr8:6837494-6837495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527382621	chr8:6837603-6837604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs372669051	chr8:6837624-6837625	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs547979549	chr8:6837719-6837720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62486782	chr8:6837800-6837801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62486783	chr8:6837823-6837824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550447774	chr8:6837828-6837829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62486784	chr8:6837885-6837886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535802407	chr8:6837898-6837899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549112633	chr8:6837910-6837911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572493600	chr8:6837913-6837914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2978854	chr8:6837939-6837940	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs2951835	chr8:6837947-6837948	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs376367653	chr8:6837981-6837982	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs576606627	chr8:6837984-6837985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372273428	chr8:6837986-6837987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556413032	chr8:6837990-6837991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576264918	chr8:6838010-6838011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62486785	chr8:6838024-6838025	Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:141)

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
Breast cancer	22522925	CNVD
Behcet''s disease	22219625	CNVD
Pancreatic cancer	17952125	CNVD
Crohn''s disease	21701837	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6833600-6837800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:6837800-6838200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:6838200-6840600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:6840600-6841800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:6856800-6857400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:6863200-6866800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:6867000-6871800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:6871800-6873000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:6872400-6872600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:6873000-6873400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:6873400-6884600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:6879800-6881200	Enhancers	Dnd41	blood
13	chr8:6881200-6881400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr8:6882000-6882400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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