Variant report

Variant	esv3531069
Chromosome Location	chr10:94433363-94435842
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	NR2F2	chr10:94433528-94433877	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94434850..94438940-chr10:94446699..94450647,3	K562	blood:
2	chr10:94434338..94436350-chr10:94446810..94449570,2	K562	blood:

Variant related genes	Relation type
EIF2S2P3	TF binding region
ENSG00000152804	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7909334	chr10:94433373-94433374	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574335810	chr10:94433379-94433380	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371439333	chr10:94433383-94433384	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527236370	chr10:94433399-94433400	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548595734	chr10:94433416-94433417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183585663	chr10:94433437-94433438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187619610	chr10:94433446-94433447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201427180	chr10:94433455-94433456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534960913	chr10:94433462-94433463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145221072	chr10:94433463-94433464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7897565	chr10:94433482-94433483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12761997	chr10:94433493-94433494	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs542655500	chr10:94433522-94433523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191856037	chr10:94433525-94433526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530967521	chr10:94433553-94433554	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs550684872	chr10:94433604-94433605	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs570580343	chr10:94433606-94433607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539533223	chr10:94433610-94433611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549251001	chr10:94433640-94433641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546999642	chr10:94433695-94433696	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184405486	chr10:94433804-94433805	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548349463	chr10:94433882-94433883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189383233	chr10:94434061-94434062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189409915	chr10:94434093-94434094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61861454	chr10:94434096-94434097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373879101	chr10:94434120-94434121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188320197	chr10:94434218-94434219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181894230	chr10:94434442-94434443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572504428	chr10:94434724-94434725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182596031	chr10:94434764-94434765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112856921	chr10:94434893-94434894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566749248	chr10:94434906-94434907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534958440	chr10:94435390-94435391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554528811	chr10:94435417-94435418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574685580	chr10:94435438-94435439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549990172	chr10:94435449-94435450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7098199	chr10:94435488-94435489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557107946	chr10:94435538-94435539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551749704	chr10:94435555-94435556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34985734	chr10:94435597-94435598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577046715	chr10:94435636-94435637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545555377	chr10:94435637-94435638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35906730	chr10:94435673-94435674	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4933735	chr10:94435683-94435684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545119475	chr10:94435731-94435732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369380171	chr10:94435748-94435749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542517018	chr10:94435754-94435755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562018634	chr10:94435755-94435756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7098638	chr10:94435759-94435760	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550797927	chr10:94435769-94435770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94432600-94433400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:94432600-94433400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:94433000-94433400	Enhancers	HepG2	liver
4	chr10:94433200-94438800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:94433400-94435800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:94433600-94434600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:94435800-94436200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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