Variant report

Variant	esv3342684
Chromosome Location	chr10:16224995-16255206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr10:16237133-16237544	GM12878	blood:	n/a	n/a
2	ATF2	chr10:16237074-16237552	GM12878	blood:	n/a	n/a
3	BATF	chr10:16237321-16237585	GM12878	blood:	n/a	n/a
4	BATF	chr10:16237101-16237316	GM12878	blood:	n/a	chr10:16237239-16237250
5	BCL3	chr10:16237288-16237504	GM12878	blood:	n/a	n/a
6	BHLHE40	chr10:16237176-16237527	GM12878	blood:	n/a	n/a
7	CEBPB	chr10:16230114-16230347	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:16237943-16238214	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr10:16254419-16254431	A549	lung:	n/a	n/a
10	CEBPB	chr10:16230190-16230315	A549	lung:	n/a	n/a
11	CHD2	chr10:16237794-16238334	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr10:16237188-16237611	GM12878	blood:	n/a	n/a
13	CTCF	chr10:16226280-16226430	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr10:16226180-16226330	AG10803	skin:	n/a	n/a
15	CTCF	chr10:16231014-16231049	GM10266	blood:	n/a	n/a
16	CTCF	chr10:16227500-16227650	GM12867	blood:	n/a	n/a
17	CTCF	chr10:16226160-16226310	RPTEC	kidney:	n/a	n/a
18	CTCF	chr10:16245640-16245790	HCFaa	heart:	n/a	n/a
19	CTCF	chr10:16233100-16233250	GM12874	blood:	n/a	n/a
20	CTCF	chr10:16248960-16249015	GM10266	blood:	n/a	n/a
21	CTCF	chr10:16226140-16226290	RPTEC	kidney:	n/a	n/a
22	CTCF	chr10:16226200-16226350	HMEC	breast:	n/a	n/a
23	CTCF	chr10:16226240-16226390	HEK293	kidney:	n/a	n/a
24	CTCF	chr10:16234803-16234874	Lung_OC	lung:	n/a	n/a
25	CTCF	chr10:16249540-16249690	Caco-2	colon:	n/a	n/a
26	CUX1	chr10:16237384-16237445	GM12878	blood:	n/a	n/a
27	E2F4	chr10:16238966-16239225	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F6	chr10:16238806-16239332	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr10:16238818-16239416	H1-hESC	embryonic stem cell:	n/a	n/a
30	EBF1	chr10:16237328-16237580	GM12878	blood:	n/a	n/a
31	EBF1	chr10:16231400-16231764	GM12878	blood:	n/a	chr10:16231596-16231607
32	EBF1	chr10:16231406-16231660	GM12878	blood:	n/a	chr10:16231596-16231607
33	EP300	chr10:16237073-16237588	GM12878	blood:	n/a	n/a
34	EP300	chr10:16237034-16237859	GM12878	blood:	n/a	n/a
35	EP300	chr10:16237152-16237497	GM12878	blood:	n/a	n/a
36	FOS	chr10:16234437-16234681	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr10:16238964-16238971	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr10:16226053-16226400	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr10:16234433-16234724	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr10:16226077-16226212	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr10:16234434-16234768	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr10:16226046-16226252	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr10:16237095-16237473	MCF10A-Er-Src	breast:	n/a	chr10:16237242-16237252 chr10:16237244-16237251 chr10:16237241-16237253 chr10:16237239-16237250 chr10:16237243-16237251
44	FOXM1	chr10:16237018-16237548	GM12878	blood:	n/a	chr10:16237240-16237248
45	GATA3	chr10:16236584-16237240	MCF-7	breast:	n/a	chr10:16237205-16237215 chr10:16236868-16236875
46	GTF2F1	chr10:16228730-16228745	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2F1	chr10:16238031-16238205	H1-hESC	embryonic stem cell:	n/a	n/a
48	HDAC2	chr10:16236749-16237100	MCF-7	breast:	n/a	chr10:16236786-16236795 chr10:16236925-16236934
49	HEY1	chr10:16240412-16240596	HepG2	liver:	n/a	n/a
50	IKZF1	chr10:16237106-16237681	GM12878	blood:	n/a	chr10:16237660-16237668

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:16238008-16238058	MCF10A-Er-Src	breast:	n/a
2	chr10:16238008-16238058	HRCEpiC	kidney:	n/a
3	chr10:16238008-16238058	HCPEpiC	choroid plexus:	n/a
4	chr10:16238008-16238058	NH-A	brain:	n/a
5	chr10:16238008-16238058	AG10803	skin:	n/a
6	chr10:16238008-16238058	IMR90	lung:	fetal
7	chr10:16238008-16238058	AG04450	lung:	fetal
8	chr10:16238008-16238058	HMEC	breast:	n/a
9	chr10:16238008-16238058	AoSMC	blood vessel:	n/a
10	chr10:16238008-16238058	K562	blood:	n/a
11	chr10:16238008-16238058	HCM	heart:	n/a
12	chr10:16238008-16238058	HIPEpiC	eye:	n/a
13	chr10:16238008-16238058	RPTEC	kidney:	n/a
14	chr10:16238008-16238058	BE2_C	brain:	n/a
15	chr10:16238008-16238058	U87	brain:	n/a
16	chr10:16238008-16238058	GM12878	blood:	n/a
17	chr10:16238008-16238058	HL-60	blood:	n/a
18	chr10:16238008-16238058	ECC-1	luminal epithelium:	n/a
19	chr10:16238008-16238058	SK-N-SH	brain:	n/a
20	chr10:16238008-16238058	AG04449	skin:	fetal
21	chr10:16238008-16238058	NHBE	bronchial:	n/a
22	chr10:16238008-16238058	NB4	blood:	n/a
23	chr10:16238008-16238058	CMK	blood:	n/a
24	chr10:16238008-16238058	H1-hESC	embryonic stem cell:	embryo
25	chr10:16238008-16238058	HCF	heart:	n/a
26	chr10:16238008-16238058	SKMC	muscle:	n/a
27	chr10:16238008-16238058	GM06990	blood:	n/a
28	chr10:16238008-16238058	HepG2	liver:	n/a
29	chr10:16238008-16238058	GM19239	blood:	n/a
30	chr10:16238008-16238058	HPAEpiC	pulmonary alveolar:	n/a
31	chr10:16238008-16238058	BJ	skin:	n/a
32	chr10:16238008-16238058	PANC-1	pancreas:	n/a
33	chr10:16238008-16238058	HNPCEpiC	eye:	n/a
34	chr10:16238008-16238058	Jurkat	blood:	n/a
35	chr10:16238008-16238058	SK-N-SH_RA	brain:	n/a
36	chr10:16238008-16238058	LNCaP	prostate:	n/a
37	chr10:16238008-16238058	Hela-S3	cervix:	n/a
38	chr10:16238008-16238058	SK-N-MC	brain:	n/a
39	chr10:16238008-16238058	HEEpiC	esophagus:	n/a
40	chr10:16238008-16238058	HEK293	kidney:	embryo
41	chr10:16238008-16238058	GM12892	blood:	n/a
42	chr10:16238008-16238058	HCT-116	colon:	n/a
43	chr10:16238008-16238058	NHDF-neo	bronchial:	n/a
44	chr10:16238008-16238058	HRPEpiC	eye:	n/a
45	chr10:16238008-16238058	PFSK-1	brain:	n/a
46	chr10:16238008-16238058	T-47D	breast:	n/a
47	chr10:16238008-16238058	Hepatocyte	liver:	n/a
48	chr10:16238008-16238058	AG09309	skin:	n/a
49	chr10:16238008-16238058	SAEC	small airway:	n/a
50	chr10:16238008-16238058	ProgFib	skin:	n/a

No data

Variant related genes	Relation type
RNU6-1075P	TF binding region
RNU6-1075P	CpG island

Extended variants
information (count: 572 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182257247	chr10:16225025-16225026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536267143	chr10:16225033-16225034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187104429	chr10:16225035-16225036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573101968	chr10:16225130-16225131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12250295	chr10:16225160-16225161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558836939	chr10:16225165-16225166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562143864	chr10:16225166-16225167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374631828	chr10:16225184-16225185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142429644	chr10:16225190-16225191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145945091	chr10:16225222-16225223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191166018	chr10:16225238-16225239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139786841	chr10:16225267-16225268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560575469	chr10:16225314-16225315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528021974	chr10:16225332-16225333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552341380	chr10:16225345-16225346	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570744348	chr10:16225367-16225368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183002556	chr10:16225398-16225399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142058347	chr10:16225493-16225494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550375540	chr10:16225494-16225495	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528778687	chr10:16225593-16225594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568948104	chr10:16225609-16225610	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535832409	chr10:16225617-16225618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551608628	chr10:16225624-16225625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554552600	chr10:16225656-16225657	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371678110	chr10:16225669-16225670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566651443	chr10:16225676-16225677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74124951	chr10:16225684-16225685	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186273103	chr10:16225685-16225686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150702546	chr10:16225752-16225753	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529954947	chr10:16225760-16225761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556350337	chr10:16225803-16225804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369370322	chr10:16225809-16225810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139967565	chr10:16225819-16225820	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541852454	chr10:16225832-16225833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2486905	chr10:16225840-16225841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11594202	chr10:16225853-16225854	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190048731	chr10:16225884-16225885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546114964	chr10:16225949-16225950	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543451207	chr10:16225967-16225968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs563241911	chr10:16225976-16225977	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149832469	chr10:16225977-16225978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147922694	chr10:16226080-16226081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529843838	chr10:16226083-16226084	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs74124952	chr10:16226122-16226123	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566510253	chr10:16226146-16226147	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs534059574	chr10:16226155-16226156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561685275	chr10:16226157-16226158	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183024664	chr10:16226176-16226177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551142047	chr10:16226217-16226218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187733048	chr10:16226335-16226336	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Renal cell carcinoma	18765545	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
DiGeorge-Velo cardiofacial	22470819	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
Adrenocortical carcinoma	18281524	CNVD
Digeorge syndrome	17576883	CNVD
Lung cancer	16773561	CNVD
Velocardiofacial syndrome	17576883	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Thymic lymphomas tumor	22700994	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16217400-16239000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:16224200-16227200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:16224400-16225200	Enhancers	Fetal Brain Female	brain
4	chr10:16224400-16227400	Weak transcription	Adipose Nuclei	Adipose
5	chr10:16224600-16225400	Enhancers	Fetal Brain Male	brain
6	chr10:16224600-16227600	Enhancers	HSMMtube	muscle
7	chr10:16224800-16225000	Enhancers	Brain Cingulate Gyrus	brain
8	chr10:16224800-16225200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:16224800-16225800	Enhancers	NHDF-Ad	bronchial
10	chr10:16224800-16227800	Enhancers	HSMM	muscle
11	chr10:16225000-16228200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:16225200-16226400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:16225800-16226200	Flanking Active TSS	NHDF-Ad	bronchial
14	chr10:16226200-16227800	Enhancers	NHDF-Ad	bronchial
15	chr10:16226400-16226800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:16226800-16227200	Enhancers	HMEC	breast
17	chr10:16226800-16227600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:16227400-16227600	Enhancers	Adipose Nuclei	Adipose
19	chr10:16227600-16227800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr10:16227600-16231200	Weak transcription	HSMMtube	muscle
21	chr10:16227800-16228800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:16228000-16229000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:16228000-16229200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr10:16228200-16229000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr10:16228200-16229000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr10:16228200-16229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:16228200-16229200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr10:16228200-16229200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr10:16228400-16229200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr10:16228400-16229400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:16228800-16229200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr10:16229000-16234400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:16229000-16235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:16229000-16236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:16229200-16229400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr10:16229200-16234400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr10:16229200-16234800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:16229200-16235000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr10:16229400-16229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:16230000-16230200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr10:16230200-16231400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:16230200-16233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:16231200-16231800	Enhancers	HSMMtube	muscle
44	chr10:16231400-16232000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr10:16231600-16232200	Enhancers	Stomach Mucosa	stomach
46	chr10:16232200-16234200	Weak transcription	Stomach Mucosa	stomach
47	chr10:16233200-16233400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr10:16233400-16234600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr10:16234200-16236600	Enhancers	Stomach Mucosa	stomach
50	chr10:16234200-16237600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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