Variant report

Variant	esv3402305
Chromosome Location	chr10:43697246-43699869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:418)
CpG islands
(count:550)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:43699491-43699537	K562	blood:	n/a	n/a
2	ARID3A	chr10:43697611-43697845	K562	blood:	n/a	n/a
3	ARID3A	chr10:43699107-43699244	K562	blood:	n/a	n/a
4	ATF3	chr10:43699488-43699780	K562	blood:	n/a	n/a
5	BACH1	chr10:43699552-43699682	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr10:43698759-43698935	K562	blood:	n/a	n/a
7	BACH1	chr10:43698778-43699232	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr10:43697668-43698288	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr10:43697648-43698011	K562	blood:	n/a	n/a
10	BHLHE40	chr10:43697640-43697818	GM12878	blood:	n/a	n/a
11	BHLHE40	chr10:43698653-43699582	K562	blood:	n/a	chr10:43699310-43699326
12	CBX3	chr10:43697609-43698066	K562	blood:	n/a	n/a
13	CBX3	chr10:43699037-43699881	K562	blood:	n/a	n/a
14	CCNT2	chr10:43697705-43698509	K562	blood:	n/a	chr10:43698091-43698100 chr10:43698085-43698094
15	CCNT2	chr10:43698852-43699271	K562	blood:	n/a	n/a
16	CEBPB	chr10:43697770-43697862	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr10:43698930-43698961	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr10:43698496-43698756	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr10:43699500-43699529	K562	blood:	n/a	n/a
20	CHD2	chr10:43697676-43697989	K562	blood:	n/a	n/a
21	CHD2	chr10:43698462-43699300	K562	blood:	n/a	n/a
22	CREB1	chr10:43697708-43698484	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr10:43697645-43698721	K562	blood:	n/a	n/a
24	CTCF	chr10:43697740-43697890	GM12865	blood:	n/a	n/a
25	CTCF	chr10:43698080-43698230	GM12878	blood:	n/a	n/a
26	CTCF	chr10:43699580-43699730	K562	blood:	n/a	chr10:43699587-43699600
27	CTCF	chr10:43697680-43697830	HCFaa	heart:	n/a	n/a
28	CTCF	chr10:43699589-43699647	GM12892	blood:	n/a	n/a
29	CTCF	chr10:43697660-43697810	HAc	cerebellar:	n/a	n/a
30	CTCF	chr10:43697655-43698073	GM12891	blood:	n/a	n/a
31	CTCF	chr10:43699567-43699660	MCF-7	breast:	n/a	chr10:43699587-43699600
32	CTCF	chr10:43699560-43699710	HMEC	breast:	n/a	chr10:43699587-43699600
33	CTCF	chr10:43697660-43697810	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr10:43697660-43697810	HRE	kidney:	n/a	n/a
35	CTCF	chr10:43697680-43697830	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr10:43699800-43699950	GM12873	blood:	n/a	n/a
37	CTCF	chr10:43699552-43699675	GM12891	blood:	n/a	chr10:43699587-43699600
38	CTCF	chr10:43697380-43697530	GM12875	blood:	n/a	chr10:43697443-43697451
39	CTCF	chr10:43699600-43699750	GM12872	blood:	n/a	n/a
40	CTCF	chr10:43697700-43697850	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr10:43697738-43697785	MCF-7	breast:	n/a	n/a
42	CTCF	chr10:43699587-43699671	GM10248	blood:	n/a	chr10:43699587-43699600
43	CTCF	chr10:43699560-43699710	HepG2	liver:	n/a	chr10:43699587-43699600
44	CTCF	chr10:43697660-43697810	HVMF	connective:	n/a	n/a
45	CTCF	chr10:43697544-43698019	K562	blood:	n/a	n/a
46	CTCF	chr10:43697448-43697460	GM10266	blood:	n/a	n/a
47	CTCF	chr10:43697688-43697909	Fibrobl	skin:	n/a	n/a
48	CTCF	chr10:43697660-43697810	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr10:43697680-43697830	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr10:43699394-43699772	H1-hESC	embryonic stem cell:	n/a	chr10:43699587-43699600

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43698008-43698058	HRPEpiC	eye:	n/a
2	chr10:43698008-43698058	HRPEpiC	eye:	n/a
3	chr10:43698008-43698058	PANC-1	pancreas:	n/a
4	chr10:43698834-43698884	Caco-2	colon:	n/a
5	chr10:43697521-43697571	AG10803	skin:	n/a
6	chr10:43697817-43697867	K562	blood:	n/a
7	chr10:43697521-43697571	GM19239	blood:	n/a
8	chr10:43699070-43699120	HL-60	blood:	n/a
9	chr10:43698141-43698191	HUVEC	blood vessel:	n/a
10	chr10:43698931-43698981	HRCEpiC	kidney:	n/a
11	chr10:43698008-43698058	HAEpiC	amniotic membrane:	n/a
12	chr10:43698931-43698981	T-47D	breast:	n/a
13	chr10:43699070-43699120	Jurkat	blood:	n/a
14	chr10:43698141-43698191	A549	lung:	n/a
15	chr10:43697918-43697968	HMEC	breast:	n/a
16	chr10:43697817-43697867	SK-N-SH_RA	brain:	n/a
17	chr10:43697918-43697968	PANC-1	pancreas:	n/a
18	chr10:43699070-43699120	HNPCEpiC	eye:	n/a
19	chr10:43697918-43697968	HEEpiC	esophagus:	n/a
20	chr10:43699070-43699120	Caco-2	colon:	n/a
21	chr10:43697918-43697968	AG04449	skin:	fetal
22	chr10:43698834-43698884	AG10803	skin:	n/a
23	chr10:43698834-43698884	RPTEC	kidney:	n/a
24	chr10:43699070-43699120	HCM	heart:	n/a
25	chr10:43698834-43698884	SK-N-MC	brain:	n/a
26	chr10:43698008-43698058	Jurkat	blood:	n/a
27	chr10:43698141-43698191	ovcar-3	ovarian:	n/a
28	chr10:43698834-43698884	ECC-1	luminal epithelium:	n/a
29	chr10:43697849-43697899	U87	brain:	n/a
30	chr10:43697817-43697867	AG09309	skin:	n/a
31	chr10:43698008-43698058	SK-N-SH	brain:	n/a
32	chr10:43698931-43698981	HL-60	blood:	n/a
33	chr10:43697849-43697899	A549	lung:	n/a
34	chr10:43697521-43697571	HRE	kidney:	n/a
35	chr10:43697918-43697968	BE2_C	brain:	n/a
36	chr10:43698141-43698191	HIPEpiC	eye:	n/a
37	chr10:43698834-43698884	HPAEpiC	pulmonary alveolar:	n/a
38	chr10:43697817-43697867	HEK293	kidney:	embryo
39	chr10:43698931-43698981	NT2-D1	testis:	n/a
40	chr10:43699070-43699120	HPAEpiC	pulmonary alveolar:	n/a
41	chr10:43697849-43697899	HUVEC	blood vessel:	n/a
42	chr10:43698931-43698981	SK-N-SH_RA	brain:	n/a
43	chr10:43697849-43697899	HEK293	kidney:	embryo
44	chr10:43698834-43698884	CMK	blood:	n/a
45	chr10:43697918-43697968	HepG2	liver:	n/a
46	chr10:43697849-43697899	AG04450	lung:	fetal
47	chr10:43698141-43698191	HCF	heart:	n/a
48	chr10:43699070-43699120	HAEpiC	amniotic membrane:	n/a
49	chr10:43698008-43698058	GM12892	blood:	n/a
50	chr10:43698008-43698058	HL-60	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43696369..43700743-chr10:43891529..43894634,3	K562	blood:
2	chr10:43698957..43702295-chr10:43702554..43706038,5	K562	blood:
3	chr10:43632694..43635237-chr10:43697053..43700182,3	MCF-7	breast:
4	chr10:43697420..43700683-chr10:43890424..43894292,4	K562	blood:
5	chr10:43632409..43636039-chr10:43698014..43700588,6	K562	blood:
6	chr10:43682496..43684417-chr10:43696461..43698091,2	K562	blood:
7	chr10:43632409..43636039-chr10:43698014..43700588,4	K562	blood:
8	chr10:43696064..43699246-chr10:43901638..43904576,3	K562	blood:
9	chr10:43699342..43701842-chr10:43722370..43724384,2	K562	blood:
10	chr10:43698632..43700457-chr10:43704012..43705797,2	K562	blood:
11	chr10:43696835..43700131-chr10:43902185..43905182,4	K562	blood:

No data

Variant related genes	Relation type
RASGEF1A	TF binding region
RASGEF1A	CpG island
ENSG00000169826	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000273008	chromatin interactions
ENSG00000198915	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574648213	chr10:43697252-43697253	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs374420086	chr10:43697276-43697277	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201778875	chr10:43697307-43697308	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs377129431	chr10:43697322-43697323	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs139592311	chr10:43697331-43697332	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs553793299	chr10:43697364-43697365	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374053578	chr10:43697398-43697399	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201250999	chr10:43697434-43697435	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560383945	chr10:43697522-43697523	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372812215	chr10:43697544-43697545	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs140135374	chr10:43697552-43697553	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546262356	chr10:43697553-43697554	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565032087	chr10:43697564-43697565	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs557773058	chr10:43697628-43697629	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs536243773	chr10:43697629-43697630	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550610977	chr10:43697753-43697754	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs79455095	chr10:43697779-43697780	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs536424882	chr10:43697780-43697781	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs114432238	chr10:43697784-43697785	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs75476003	chr10:43697808-43697809	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs74867964	chr10:43697817-43697818	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs558680804	chr10:43697828-43697829	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs570781185	chr10:43697841-43697842	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537960774	chr10:43697853-43697854	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs556584488	chr10:43697859-43697860	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs574713269	chr10:43697872-43697873	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs141519061	chr10:43697965-43697966	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs150911771	chr10:43698083-43698084	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs554077741	chr10:43698101-43698102	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556445495	chr10:43698107-43698108	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs151020875	chr10:43698221-43698222	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs1270015	chr10:43698240-43698241	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs540269047	chr10:43698243-43698244	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs564737715	chr10:43698268-43698269	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs532098158	chr10:43698279-43698280	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs543996888	chr10:43698321-43698322	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs562550423	chr10:43698329-43698330	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs529952308	chr10:43698344-43698345	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs548397411	chr10:43698361-43698362	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs190399952	chr10:43698437-43698438	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs566822165	chr10:43698440-43698441	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs527596348	chr10:43698451-43698452	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs552405587	chr10:43698455-43698456	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs570770025	chr10:43698481-43698482	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs12767663	chr10:43698492-43698493	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs181753943	chr10:43698534-43698535	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs374197063	chr10:43698540-43698541	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs368506776	chr10:43698598-43698599	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs377764787	chr10:43698634-43698635	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs376244494	chr10:43698635-43698636	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43662200-43697600	Weak transcription	NHEK	skin
2	chr10:43674400-43697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:43675600-43700600	Weak transcription	A549	lung
4	chr10:43679400-43697400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:43680000-43697600	Weak transcription	NH-A	brain
6	chr10:43682000-43697400	Weak transcription	Liver	Liver
7	chr10:43682600-43697400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:43682600-43697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:43683000-43697400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:43683000-43697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:43683000-43697400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:43684400-43697400	Weak transcription	Primary T cells from cord blood	blood
13	chr10:43688600-43697800	Weak transcription	Aorta	Aorta
14	chr10:43688800-43697600	Weak transcription	NHLF	lung
15	chr10:43689000-43697800	Weak transcription	HSMM	muscle
16	chr10:43689200-43697400	Weak transcription	Esophagus	oesophagus
17	chr10:43690000-43697400	Weak transcription	Fetal Brain Female	brain
18	chr10:43690600-43697400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:43693400-43697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr10:43694000-43697400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:43694600-43697400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr10:43695200-43697600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:43696200-43697400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:43696200-43697400	Weak transcription	Right Atrium	heart
25	chr10:43696200-43697600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:43696400-43697600	Enhancers	Brain Hippocampus Middle	brain
27	chr10:43696400-43697600	Enhancers	Colon Smooth Muscle	Colon
28	chr10:43696400-43697800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:43696600-43697400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr10:43696600-43697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:43696600-43697600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:43696600-43697600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr10:43696600-43697800	Enhancers	Brain Substantia Nigra	brain
34	chr10:43696600-43697800	Enhancers	Lung	lung
35	chr10:43696800-43697400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr10:43696800-43697400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:43696800-43697400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr10:43696800-43697400	Enhancers	Primary B cells from peripheral blood	blood
39	chr10:43696800-43697400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:43696800-43697800	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:43696800-43697800	Enhancers	Right Ventricle	heart
42	chr10:43697000-43697400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:43697000-43697400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr10:43697000-43697400	Enhancers	Fetal Intestine Small	intestine
45	chr10:43697000-43697600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr10:43697000-43697600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:43697000-43697600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr10:43697000-43697600	Enhancers	Primary hematopoietic stem cells	blood
49	chr10:43697000-43697600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:43697000-43697600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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