Variant report

Variant	esv3376356
Chromosome Location	chr6:167582508-167583070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:167582908-167582917	GM19239	blood:	n/a	n/a
2	CTCF	chr6:167582989-167583038	GM12892	blood:	n/a	n/a
3	POLR2A	chr6:167582820-167582988	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:167582908-167583179	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:167582937-167582939	MCF-7	breast:	n/a	n/a
6	POLR2A	chr6:167583008-167583029	MCF-7	breast:	n/a	n/a
7	POLR2A	chr6:167583030-167583187	MCF-7	breast:	n/a	n/a
8	POU2F2	chr6:167582726-167583180	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR31-3	chr6:167583039-167583124	FPKM1_group_28907_transcript_1
2	lnc-GPR31-3	chr6:167582786-167583124	NONHSAT116085
3	lnc-GPR31-3	chr6:167582786-167583034	FPKM1_group_28907_transcript_1

No data

Variant related genes	Relation type
TCP10L2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541150404	chr6:167582528-167582529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374292818	chr6:167582557-167582558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191276207	chr6:167582559-167582560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530086933	chr6:167582570-167582571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368619860	chr6:167582573-167582574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142983499	chr6:167582613-167582614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200854758	chr6:167582621-167582622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151107619	chr6:167582624-167582625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377416670	chr6:167582641-167582642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3117543	chr6:167582642-167582643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548613456	chr6:167582661-167582662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563715126	chr6:167582670-167582671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531503556	chr6:167582721-167582722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372904994	chr6:167582760-167582761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs550078432	chr6:167582762-167582763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs374878887	chr6:167582771-167582772	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs369230770	chr6:167582799-167582800	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs538845432	chr6:167582805-167582806	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs547062889	chr6:167582827-167582828	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs111210810	chr6:167582920-167582921	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs145084172	chr6:167582929-167582930	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs201550103	chr6:167582938-167582939	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs111066659	chr6:167582946-167582947	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs565442897	chr6:167582983-167582984	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs535803298	chr6:167582997-167582998	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs554132861	chr6:167583001-167583002	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs575676981	chr6:167583052-167583053	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167579200-167586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167579200-167587600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:167579400-167582800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:167582800-167583200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:167582800-167583200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:167582800-167583200	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr6:167582800-167583400	Enhancers	Gastric	stomach
8	chr6:167582800-167583400	Enhancers	Pancreas	Pancrea
9	chr6:167583000-167583400	Enhancers	Primary B cells from peripheral blood	blood

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