Variant report

Variant	esv3404759
Chromosome Location	chr10:1565952-1570250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr10:1568687-1568837	K562	blood:	n/a	n/a
2	BCL3	chr10:1567685-1568372	GM12878	blood:	n/a	chr10:1568282-1568291
3	BCL3	chr10:1567710-1568318	GM12878	blood:	n/a	chr10:1568282-1568291
4	CTCF	chr10:1566760-1566910	GM12873	blood:	n/a	n/a
5	CTCF	chr10:1567906-1568142	GM19239	blood:	n/a	n/a
6	CTCF	chr10:1568089-1568096	GM12892	blood:	n/a	n/a
7	CTCF	chr10:1566800-1566950	GM12873	blood:	n/a	n/a
8	CTCF	chr10:1568900-1569050	GM12872	blood:	n/a	n/a
9	CTCF	chr10:1566660-1566810	Caco-2	colon:	n/a	n/a
10	CTCF	chr10:1566820-1566970	GM12866	blood:	n/a	n/a
11	CTCF	chr10:1566829-1566979	GM12891	blood:	n/a	n/a
12	CTCF	chr10:1566895-1566925	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr10:1566809-1567010	GM19239	blood:	n/a	n/a
14	CTCF	chr10:1566873-1566972	GM12892	blood:	n/a	n/a
15	CTCF	chr10:1568082-1568086	GM12892	blood:	n/a	n/a
16	E2F6	chr10:1568870-1569087	K562	blood:	n/a	n/a
17	ELF1	chr10:1568678-1569089	GM12878	blood:	n/a	n/a
18	FOXP2	chr10:1568562-1569112	PFSK-1	brain:	n/a	n/a
19	MAX	chr10:1568667-1568925	K562	blood:	n/a	n/a
20	MAX	chr10:1568534-1569194	MCF-7	breast:	n/a	n/a
21	MAX	chr10:1568754-1568760	NB4	blood:	n/a	n/a
22	MAX	chr10:1568657-1568967	K562	blood:	n/a	n/a
23	MYC	chr10:1568022-1568213	MCF-7	breast:	n/a	n/a
24	MYC	chr10:1566866-1566988	NB4	blood:	n/a	n/a
25	NFATC1	chr10:1567743-1568328	GM12878	blood:	n/a	n/a
26	NFATC1	chr10:1567723-1568338	GM12878	blood:	n/a	n/a
27	NFYA	chr10:1568607-1568854	K562	blood:	n/a	chr10:1568720-1568738
28	NFYB	chr10:1568665-1568868	Hela-S3	cervix:	n/a	n/a
29	NFYB	chr10:1568587-1568950	GM12878	blood:	n/a	n/a
30	NFYB	chr10:1568537-1568949	K562	blood:	n/a	n/a
31	PBX3	chr10:1567756-1568294	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:1570180-1570328	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr10:1568362-1572534	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr10:1567670-1568369	GM12892	blood:	n/a	n/a
35	POLR2A	chr10:1568004-1568204	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:1567992-1568241	Gliobla	brain:	n/a	n/a
37	POLR2A	chr10:1568288-1575383	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr10:1567881-1568248	MCF-7	breast:	n/a	n/a
39	POLR2A	chr10:1567715-1568310	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:1567769-1568249	PFSK-1	brain:	n/a	n/a
41	POU2F2	chr10:1567699-1568270	GM12891	blood:	n/a	n/a
42	RAD21	chr10:1566875-1566881	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr10:1566761-1567015	GM12878	blood:	n/a	n/a
44	REST	chr10:1568287-1569133	PFSK-1	brain:	n/a	chr10:1568517-1568526 chr10:1568515-1568523
45	REST	chr10:1568424-1568649	H1-hESC	embryonic stem cell:	n/a	chr10:1568517-1568526 chr10:1568515-1568523
46	REST	chr10:1568384-1568622	GM12878	blood:	n/a	chr10:1568517-1568526 chr10:1568515-1568523
47	REST	chr10:1568375-1568730	HL-60	blood:	n/a	chr10:1568517-1568526 chr10:1568515-1568523
48	REST	chr10:1568189-1569144	PFSK-1	brain:	n/a	chr10:1568517-1568526 chr10:1568515-1568523
49	REST	chr10:1568401-1568590	H1-hESC	embryonic stem cell:	n/a	chr10:1568517-1568526 chr10:1568515-1568523
50	REST	chr10:1568416-1568553	Hela-S3	cervix:	n/a	chr10:1568517-1568526 chr10:1568515-1568523

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:1568759-1568809	AG09319	gingival:	n/a
2	chr10:1568806-1568856	HIPEpiC	eye:	n/a
3	chr10:1567746-1567796	Hela-S3	cervix:	n/a
4	chr10:1568806-1568856	SK-N-SH_RA	brain:	n/a
5	chr10:1569971-1570021	HRE	kidney:	n/a
6	chr10:1568806-1568856	HRPEpiC	eye:	n/a
7	chr10:1568812-1568862	ECC-1	luminal epithelium:	n/a
8	chr10:1567746-1567796	A549	lung:	n/a
9	chr10:1570039-1570089	SKMC	muscle:	n/a
10	chr10:1567746-1567796	CMK	blood:	n/a
11	chr10:1567897-1567947	Hepatocyte	liver:	n/a
12	chr10:1567872-1567922	HRPEpiC	eye:	n/a
13	chr10:1567872-1567922	BE2_C	brain:	n/a
14	chr10:1567746-1567796	ovcar-3	ovarian:	n/a
15	chr10:1569971-1570021	GM12891	blood:	n/a
16	chr10:1567897-1567947	GM06990	blood:	n/a
17	chr10:1570039-1570089	BJ	skin:	n/a
18	chr10:1567872-1567922	NB4	blood:	n/a
19	chr10:1569971-1570021	SK-N-SH	brain:	n/a
20	chr10:1567872-1567922	HMEC	breast:	n/a
21	chr10:1567897-1567947	NT2-D1	testis:	n/a
22	chr10:1568806-1568856	K562	blood:	n/a
23	chr10:1569971-1570021	T-47D	breast:	n/a
24	chr10:1567897-1567947	HepG2	liver:	n/a
25	chr10:1570039-1570089	HMEC	breast:	n/a
26	chr10:1567746-1567796	BE2_C	brain:	n/a
27	chr10:1569971-1570021	HCM	heart:	n/a
28	chr10:1567897-1567947	HRPEpiC	eye:	n/a
29	chr10:1570039-1570089	K562	blood:	n/a
30	chr10:1568806-1568856	PANC-1	pancreas:	n/a
31	chr10:1568812-1568862	Hepatocyte	liver:	n/a
32	chr10:1568806-1568856	HMEC	breast:	n/a
33	chr10:1567746-1567796	BJ	skin:	n/a
34	chr10:1567872-1567922	PANC-1	pancreas:	n/a
35	chr10:1568806-1568856	ovcar-3	ovarian:	n/a
36	chr10:1570039-1570089	AG04449	skin:	fetal
37	chr10:1568759-1568809	PFSK-1	brain:	n/a
38	chr10:1570039-1570089	HRCEpiC	kidney:	n/a
39	chr10:1567746-1567796	HCM	heart:	n/a
40	chr10:1570039-1570089	HRE	kidney:	n/a
41	chr10:1567897-1567947	T-47D	breast:	n/a
42	chr10:1567746-1567796	GM12891	blood:	n/a
43	chr10:1567897-1567947	HPAEpiC	pulmonary alveolar:	n/a
44	chr10:1568812-1568862	AG10803	skin:	n/a
45	chr10:1568806-1568856	AG09319	gingival:	n/a
46	chr10:1568759-1568809	SK-N-SH	brain:	n/a
47	chr10:1569971-1570021	NB4	blood:	n/a
48	chr10:1569971-1570021	HCPEpiC	choroid plexus:	n/a
49	chr10:1567897-1567947	HIPEpiC	eye:	n/a
50	chr10:1570039-1570089	HepG2	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR37-2	chr10:1568832-1569094	ENSG00000205696.4
2	lnc-WDR37-2	chr10:1568825-1569094	NONHSAT010932
3	lnc-WDR37-2	chr10:1568958-1569094	ENSG00000205696.4

No data

Variant related genes	Relation type
ADARB2-AS1	TF binding region
ADARB2-AS1	CpG island

Extended variants
information (count: 212 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576846311	chr10:1565959-1565960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185752901	chr10:1565972-1565973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368046622	chr10:1565980-1565981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371573332	chr10:1565985-1565986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546005843	chr10:1566014-1566015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562537821	chr10:1566028-1566029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543665788	chr10:1566038-1566039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557574749	chr10:1566067-1566068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565194166	chr10:1566139-1566140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560235412	chr10:1566146-1566147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531680142	chr10:1566182-1566183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528873854	chr10:1566196-1566197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530669494	chr10:1566234-1566235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370775417	chr10:1566249-1566250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374399371	chr10:1566250-1566251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375954768	chr10:1566252-1566253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370845165	chr10:1566253-1566254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373643747	chr10:1566254-1566255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373910964	chr10:1566256-1566257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143744774	chr10:1566270-1566271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137907309	chr10:1566288-1566289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58417690	chr10:1566295-1566296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556667028	chr10:1566296-1566297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34113585	chr10:1566297-1566298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398069715	chr10:1566298-1566299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148985605	chr10:1566358-1566359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530090925	chr10:1566369-1566370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529900492	chr10:1566380-1566381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547132273	chr10:1566398-1566399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566988890	chr10:1566439-1566440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546747751	chr10:1566444-1566445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12415287	chr10:1566475-1566476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190122323	chr10:1566484-1566485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182388000	chr10:1566502-1566503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554813711	chr10:1566535-1566536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574110403	chr10:1566536-1566537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2676738	chr10:1566546-1566547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553465342	chr10:1566552-1566553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12415020	chr10:1566613-1566614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548708735	chr10:1566628-1566629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs72764953	chr10:1566656-1566657	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538677476	chr10:1566662-1566663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs562714763	chr10:1566687-1566688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2676737	chr10:1566771-1566772	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551850628	chr10:1566807-1566808	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368891091	chr10:1566837-1566838	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs11250582	chr10:1566851-1566852	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs374078183	chr10:1566855-1566856	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs527569148	chr10:1566878-1566879	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs373184105	chr10:1566883-1566884	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1551600-1566800	Weak transcription	Fetal Brain Male	brain
2	chr10:1565000-1568800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:1565200-1567800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:1565200-1567800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:1565200-1567800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1565200-1568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:1565200-1568800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:1565200-1568800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:1565600-1568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:1565600-1569200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:1565800-1568000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:1565800-1578000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:1566800-1567000	Bivalent Enhancer	Fetal Brain Male	brain
14	chr10:1567800-1568000	Enhancers	Dnd41	blood
15	chr10:1567800-1568200	Enhancers	Esophagus	oesophagus
16	chr10:1567800-1568200	Bivalent Enhancer	Fetal Brain Male	brain
17	chr10:1567800-1568400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:1567800-1568400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:1567800-1569200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:1568000-1568200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:1568000-1568200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:1568000-1568200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
23	chr10:1568000-1568200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
24	chr10:1568000-1569200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr10:1568000-1569800	Flanking Active TSS	Dnd41	blood
26	chr10:1568200-1568400	Bivalent Enhancer	Fetal Kidney	kidney
27	chr10:1568200-1568400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr10:1568200-1568800	Weak transcription	Esophagus	oesophagus
29	chr10:1568200-1571400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:1568400-1577200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:1568800-1569000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr10:1568800-1569000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr10:1568800-1569200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr10:1568800-1569200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:1568800-1569200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
36	chr10:1568800-1569200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr10:1568800-1569200	Active TSS	Esophagus	oesophagus
38	chr10:1568800-1569400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr10:1568800-1569400	Active TSS	Fetal Thymus	thymus
40	chr10:1568800-1569600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:1569000-1569400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr10:1569000-1569400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
43	chr10:1569200-1569600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr10:1569800-1571600	Transcr. at gene 5' and 3'	Dnd41	blood

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