Variant report

Variant	esv3479132
Chromosome Location	chr8:39163687-39168819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:39166617-39166716	GM13976	blood:	n/a	n/a
2	CTCF	chr8:39163600-39163750	GM12865	blood:	n/a	n/a
3	FAM48A	chr8:39168075-39168140	GM12878	blood:	n/a	n/a
4	FOXA1	chr8:39165553-39165768	T-47D	breast:	n/a	chr8:39165686-39165701
5	FOXA1	chr8:39165528-39165802	T-47D	breast:	n/a	chr8:39165686-39165701
6	IRF1	chr8:39168091-39168172	K562	blood:	n/a	n/a
7	MAX	chr8:39165476-39165625	K562	blood:	n/a	n/a
8	MAX	chr8:39165413-39165644	K562	blood:	n/a	n/a
9	MYC	chr8:39167497-39167511	H1-hESC	embryonic stem cell:	n/a	n/a
10	NRF1	chr8:39164161-39164177	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:39166116-39166195	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:39166908-39166996	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr8:39164546-39164646	MCF10A-Er-Src	breast:	n/a	n/a
14	TBL1XR1	chr8:39164336-39164374	GM12878	blood:	n/a	n/a
15	YY1	chr8:39165492-39165610	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TM2D2-6	chr8:39167428-39167962	NONHSAT126147

Variant related genes	Relation type
ENSG00000253160	TF binding region
ADAM5	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77777185	chr8:39163687-39163688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12681970	chr8:39163716-39163717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150390934	chr8:39163727-39163728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568326330	chr8:39163796-39163797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368657882	chr8:39167431-39167432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555264138	chr8:39167433-39167434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs578001830	chr8:39167449-39167450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs529260155	chr8:39167531-39167532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs545175879	chr8:39167532-39167533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559695766	chr8:39167557-39167558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs149175896	chr8:39167565-39167566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs574272381	chr8:39167608-39167609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs551617988	chr8:39167612-39167613	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs13266761	chr8:39167669-39167670	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530675656	chr8:39167695-39167696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556820228	chr8:39167707-39167708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs10958545	chr8:39167739-39167740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs34443788	chr8:39167761-39167762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs545691712	chr8:39167777-39167778	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs567408041	chr8:39167797-39167798	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs7831944	chr8:39167828-39167829	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112245407	chr8:39167857-39167858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs4587294	chr8:39167860-39167861	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564719910	chr8:39167923-39167924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs117654399	chr8:39167927-39167928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs571529788	chr8:39168115-39168116	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs148248244	chr8:39168116-39168117	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs553897357	chr8:39168151-39168152	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20932292	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39163200-39163800	Enhancers	Fetal Intestine Small	intestine

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