Variant report

Variant	esv3325109
Chromosome Location	chr6:167626263-167626940
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	ATF2	chr6:167626020-167626431	GM12878	blood:	n/a	n/a
2	ATF2	chr6:167625939-167626508	GM12878	blood:	n/a	n/a
3	BATF	chr6:167625959-167626402	GM12878	blood:	n/a	n/a
4	BATF	chr6:167625794-167626502	GM12878	blood:	n/a	n/a
5	BCL11A	chr6:167626130-167626424	GM12878	blood:	n/a	n/a
6	EBF1	chr6:167626039-167626328	GM12878	blood:	n/a	n/a
7	EP300	chr6:167626129-167626387	GM12878	blood:	n/a	n/a
8	IRF4	chr6:167625856-167626536	GM12878	blood:	n/a	n/a
9	IRF4	chr6:167625903-167626521	GM12878	blood:	n/a	n/a
10	NFIC	chr6:167625869-167626509	GM12878	blood:	n/a	chr6:167625938-167625966
11	PBX3	chr6:167626290-167626443	GM12878	blood:	n/a	n/a
12	RUNX3	chr6:167625826-167626444	GM12878	blood:	n/a	n/a
13	RUNX3	chr6:167626013-167626418	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr6:167626262-167626276	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167620399..167623068-chr6:167623897..167626646,2	K562	blood:

Variant related genes	Relation type
ENSG00000216966	TF binding region
ENSG00000216966	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9459925	chr6:167626278-167626279	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527560201	chr6:167626287-167626288	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566315332	chr6:167626315-167626316	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9348237	chr6:167626318-167626319	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371389595	chr6:167626356-167626357	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77869223	chr6:167626409-167626410	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537406233	chr6:167626443-167626444	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78729830	chr6:167626469-167626470	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571938962	chr6:167626470-167626471	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181837222	chr6:167626502-167626503	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554538558	chr6:167626510-167626511	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572653273	chr6:167626514-167626515	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543252115	chr6:167626566-167626567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554755533	chr6:167626568-167626569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576491078	chr6:167626597-167626598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543425239	chr6:167626619-167626620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564952940	chr6:167626625-167626626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369469351	chr6:167626643-167626644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117904954	chr6:167626661-167626662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375709320	chr6:167626690-167626691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148756544	chr6:167626697-167626698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9356567	chr6:167626701-167626702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4645396	chr6:167626750-167626751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186817548	chr6:167626818-167626819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567205516	chr6:167626828-167626829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531455058	chr6:167626860-167626861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375205840	chr6:167626881-167626882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142302278	chr6:167626888-167626889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4457144	chr6:167626895-167626896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151251134	chr6:167626926-167626927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167615800-167628800	Weak transcription	Right Atrium	heart
2	chr6:167622400-167626600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:167622400-167627200	Enhancers	HepG2	liver
4	chr6:167623000-167629200	Enhancers	Fetal Brain Male	brain
5	chr6:167623600-167628200	Enhancers	Fetal Brain Female	brain
6	chr6:167624600-167632800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:167624800-167627800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:167625600-167630000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:167626000-167626800	Enhancers	GM12878-XiMat	blood
10	chr6:167626200-167627800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:167626200-167635000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:167626600-167631000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:167626800-167627600	Weak transcription	Brain Cingulate Gyrus	brain

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