Variant report

Variant	nsv975797
Chromosome Location	chr10:37883121-37904647
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	BHLHE40	chr10:37890242-37890438	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:37903150-37903203	HepG2	liver:	n/a	chr10:37903186-37903197
3	MAFK	chr10:37892937-37892939	HepG2	liver:	n/a	n/a
4	MAX	chr10:37901369-37901774	NB4	blood:	n/a	chr10:37901605-37901615
5	MAZ	chr10:37886945-37887010	HepG2	liver:	n/a	n/a
6	MYC	chr10:37889164-37889302	NB4	blood:	n/a	n/a
7	POLR2A	chr10:37892993-37893193	MCF10A-Er-Src	breast:	n/a	n/a
8	SIX5	chr10:37890277-37890438	K562	blood:	n/a	n/a
9	TCF7L2	chr10:37888693-37888893	HepG2	liver:	n/a	n/a
10	ZBTB33	chr10:37890309-37890398	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MTND1P18	TF binding region
MTRNR2L7	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs546707114	chr10:37883614-37883615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566587444	chr10:37883625-37883626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373791200	chr10:37883663-37883664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2224372	chr10:37883669-37883670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs575934367	chr10:37883708-37883709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528132021	chr10:37883712-37883713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371160595	chr10:37883736-37883737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577765391	chr10:37883742-37883743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538133635	chr10:37883766-37883767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187290714	chr10:37883809-37883810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560461587	chr10:37883854-37883855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529218738	chr10:37883858-37883859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540194784	chr10:37883885-37883886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76503219	chr10:37883924-37883925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7081464	chr10:37883937-37883938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs542846428	chr10:37883976-37883977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530866242	chr10:37883984-37883985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78009895	chr10:37884022-37884023	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs398075093	chr10:37884029-37884030	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397736193	chr10:37884030-37884031	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562526388	chr10:37884122-37884123	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140401081	chr10:37884131-37884132	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77483796	chr10:37884150-37884151	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112615752	chr10:37884163-37884164	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373633946	chr10:37884169-37884170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192733626	chr10:37884200-37884201	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532471963	chr10:37884233-37884234	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10827801	chr10:37884247-37884248	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533557558	chr10:37884289-37884290	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113333342	chr10:37884290-37884291	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529361116	chr10:37884375-37884376	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7906442	chr10:37884427-37884428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184771885	chr10:37884488-37884489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117188586	chr10:37884501-37884502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538400783	chr10:37884520-37884521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558496972	chr10:37884550-37884551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7923327	chr10:37884602-37884603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143964419	chr10:37884614-37884615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189215291	chr10:37884663-37884664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs74137120	chr10:37884676-37884677	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7917948	chr10:37884682-37884683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573712900	chr10:37884719-37884720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542337775	chr10:37884726-37884727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556197966	chr10:37884762-37884763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192697484	chr10:37884774-37884775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544766836	chr10:37884806-37884807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs7917984	chr10:37884809-37884810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs564839389	chr10:37884818-37884819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527578163	chr10:37884819-37884820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs7918001	chr10:37884850-37884851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37883600-37884400	Enhancers	Stomach Mucosa	stomach
2	chr10:37884000-37887000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr10:37891800-37892400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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