Variant report

Variant	esv3516968
Chromosome Location	chr10:5888946-5893894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:5892490-5892657	HepG2	liver:	n/a	chr10:5892592-5892603
2	CEBPB	chr10:5892445-5892700	HepG2	liver:	n/a	chr10:5892592-5892603
3	CEBPB	chr10:5888482-5888964	HepG2	liver:	n/a	chr10:5888800-5888811
4	CEBPB	chr10:5888759-5888958	A549	lung:	n/a	chr10:5888800-5888811
5	CTCF	chr10:5889720-5889870	GM12871	blood:	n/a	n/a
6	GATA3	chr10:5892518-5892755	T-47D	breast:	n/a	n/a
7	POLR2A	chr10:5889413-5889719	K562	blood:	n/a	n/a
8	POLR2A	chr10:5893486-5893550	K562	blood:	n/a	n/a
9	ZNF384	chr10:5893867-5893890	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:5835385..5837024-chr10:5893151..5895747,2	MCF-7	breast:
2	chr10:5889255..5891417-chr10:5903224..5906135,2	MCF-7	breast:
3	chr10:5872995..5874657-chr10:5893099..5894735,2	K562	blood:
4	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:
5	chr10:5853739..5856663-chr10:5888964..5891448,2	MCF-7	breast:
6	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:
7	chr10:5887749..5890618-chr10:5895657..5897180,2	K562	blood:
8	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:
9	chr10:5854377..5856986-chr10:5893024..5895477,2	MCF-7	breast:

No data

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000240180	chromatin interactions
ENSG00000057608	chromatin interactions
ENSG00000272764	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149559445	chr10:5888951-5888952	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368805659	chr10:5888953-5888954	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565714801	chr10:5888960-5888961	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11255527	chr10:5888961-5888962	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573738836	chr10:5889000-5889001	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs140999016	chr10:5889008-5889009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7898059	chr10:5889038-5889039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536622223	chr10:5889041-5889042	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10795590	chr10:5889086-5889087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570462712	chr10:5889099-5889100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534987523	chr10:5889129-5889130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553678150	chr10:5889171-5889172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369024694	chr10:5889191-5889192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574922943	chr10:5889216-5889217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536062023	chr10:5889234-5889235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557442719	chr10:5889276-5889277	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs35817877	chr10:5889302-5889303	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs575827987	chr10:5889334-5889335	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs562215407	chr10:5889392-5889393	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs546184332	chr10:5889405-5889406	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs4282894	chr10:5889426-5889427	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573217682	chr10:5889427-5889428	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs4428973	chr10:5889453-5889454	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112618302	chr10:5889456-5889457	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559609169	chr10:5889460-5889461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs182745921	chr10:5889461-5889462	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs5782863	chr10:5889481-5889482	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs140036669	chr10:5889501-5889502	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs548005469	chr10:5889561-5889562	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs5782864	chr10:5889585-5889586	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs4293029	chr10:5889602-5889603	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs4520489	chr10:5889609-5889610	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs138203873	chr10:5889634-5889635	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs144761013	chr10:5889635-5889636	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs147593244	chr10:5889636-5889637	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs143602241	chr10:5889639-5889640	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs552278688	chr10:5889797-5889798	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570353441	chr10:5889798-5889799	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs546762081	chr10:5889828-5889829	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs534658052	chr10:5889833-5889834	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201638178	chr10:5890014-5890015	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs200125709	chr10:5890017-5890018	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs34480563	chr10:5890021-5890022	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs397846218	chr10:5890034-5890035	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112759467	chr10:5890041-5890042	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs188844078	chr10:5890073-5890074	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs528926955	chr10:5890170-5890171	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs557603520	chr10:5890178-5890179	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs550525690	chr10:5890206-5890207	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs575942855	chr10:5890266-5890267	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:5883400-5889000	Enhancers	Primary B cells from cord blood	blood
3	chr10:5886200-5889400	Enhancers	Placenta	Placenta
4	chr10:5887000-5889400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:5887200-5889000	Enhancers	GM12878-XiMat	blood
6	chr10:5888000-5889200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:5888400-5889200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:5888400-5889200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr10:5888600-5889200	Enhancers	HepG2	liver
10	chr10:5888600-5894200	Weak transcription	K562	blood
11	chr10:5888800-5889000	Enhancers	Fetal Muscle Trunk	muscle
12	chr10:5888800-5904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:5889000-5890200	Weak transcription	Primary B cells from cord blood	blood
14	chr10:5889000-5894000	Weak transcription	GM12878-XiMat	blood
15	chr10:5889200-5894200	Weak transcription	HepG2	liver
16	chr10:5889200-5900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:5889400-5902000	Weak transcription	Placenta	Placenta
18	chr10:5890200-5896600	Enhancers	Primary B cells from cord blood	blood
19	chr10:5892800-5893000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:5893600-5896400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:5893600-5896400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:5893800-5894200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr10:5893800-5896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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