Variant report

Variant	esv3375268
Chromosome Location	chr10:44878846-44883969
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	ARID3A	chr10:44882107-44882307	HepG2	liver:	n/a	n/a
2	ATF3	chr10:44882112-44882269	K562	blood:	n/a	n/a
3	BACH1	chr10:44880796-44881429	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr10:44882052-44882506	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr10:44879399-44880089	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr10:44881774-44881807	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr10:44881995-44882274	GM12878	blood:	n/a	n/a
8	BHLHE40	chr10:44882094-44882278	K562	blood:	n/a	chr10:44882150-44882166
9	BRCA1	chr10:44882054-44882214	HepG2	liver:	n/a	n/a
10	CCNT2	chr10:44882111-44882345	K562	blood:	n/a	n/a
11	CEBPB	chr10:44882134-44882409	K562	blood:	n/a	n/a
12	CEBPB	chr10:44882105-44882260	HepG2	liver:	n/a	n/a
13	CEBPB	chr10:44882112-44882349	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr10:44882081-44882254	HepG2	liver:	n/a	n/a
15	CHD2	chr10:44882077-44882239	HepG2	liver:	n/a	n/a
16	CREB1	chr10:44879975-44880721	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr10:44882086-44882642	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr10:44877649-44880413	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:44882012-44882360	A549	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
20	CTCF	chr10:44882041-44882345	GM12891	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
21	CTCF	chr10:44882100-44882250	NHEK	skin:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
22	CTCF	chr10:44881583-44881749	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr10:44882009-44882345	H1-hESC	embryonic stem cell:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
24	CTCF	chr10:44882006-44882349	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
25	CTCF	chr10:44882540-44882690	GM12873	blood:	n/a	n/a
26	CTCF	chr10:44882120-44882270	HRE	kidney:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
27	CTCF	chr10:44879660-44879810	BJ	skin:	n/a	n/a
28	CTCF	chr10:44882120-44882270	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
29	CTCF	chr10:44882472-44882501	GM13977	blood:	n/a	n/a
30	CTCF	chr10:44882120-44882270	HepG2	liver:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
31	CTCF	chr10:44882050-44882324	MCF-7	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
32	CTCF	chr10:44881920-44882070	GM12870	blood:	n/a	n/a
33	CTCF	chr10:44881998-44882402	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
34	CTCF	chr10:44882160-44882310	HRPEpiC	eye:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
35	CTCF	chr10:44882100-44882250	GM12865	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
36	CTCF	chr10:44882120-44882270	GM12869	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
37	CTCF	chr10:44882059-44882327	SK-N-SH_RA	brain:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
38	CTCF	chr10:44882005-44882381	H1-hESC	embryonic stem cell:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
39	CTCF	chr10:44882100-44882250	HVMF	connective:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
40	CTCF	chr10:44882120-44882270	GM12872	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
41	CTCF	chr10:44882060-44882210	HCM	heart:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
42	CTCF	chr10:44879740-44879890	NHLF	lung:	n/a	n/a
43	CTCF	chr10:44882120-44882270	SK-N-SH_RA	brain:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
44	CTCF	chr10:44882160-44882310	HBMEC	blood vessel:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
45	CTCF	chr10:44882100-44882250	GM12875	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
46	CTCF	chr10:44882071-44882292	HUVEC	blood vessel:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
47	CTCF	chr10:44882580-44882730	AG04450	lung:	n/a	n/a
48	CTCF	chr10:44882140-44882290	GM12878	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
49	CTCF	chr10:44879780-44879879	ProgFib	skin:	n/a	n/a
50	CTCF	chr10:44882080-44882230	AG04450	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:44879465-44879515	PFSK-1	brain:	n/a
2	chr10:44881934-44881984	HRE	kidney:	n/a
3	chr10:44880542-44880592	NHDF-neo	bronchial:	n/a
4	chr10:44882340-44882390	AG04449	skin:	fetal
5	chr10:44882599-44882649	GM12891	blood:	n/a
6	chr10:44881551-44881601	HIPEpiC	eye:	n/a
7	chr10:44882135-44882185	AG04450	lung:	fetal
8	chr10:44881551-44881601	HEK293	kidney:	embryo
9	chr10:44880730-44880780	K562	blood:	n/a
10	chr10:44880708-44880758	GM19239	blood:	n/a
11	chr10:44880730-44880780	ECC-1	luminal epithelium:	n/a
12	chr10:44880236-44880286	AoSMC	blood vessel:	n/a
13	chr10:44880128-44880178	HUVEC	blood vessel:	n/a
14	chr10:44880542-44880592	HUVEC	blood vessel:	n/a
15	chr10:44879465-44879515	HNPCEpiC	eye:	n/a
16	chr10:44880730-44880780	HMEC	breast:	n/a
17	chr10:44880562-44880612	HIPEpiC	eye:	n/a
18	chr10:44882340-44882390	HCM	heart:	n/a
19	chr10:44880559-44880609	GM12892	blood:	n/a
20	chr10:44879465-44879515	Hela-S3	cervix:	n/a
21	chr10:44879465-44879515	HepG2	liver:	n/a
22	chr10:44880542-44880592	HCT-116	colon:	n/a
23	chr10:44880559-44880609	AG04449	skin:	fetal
24	chr10:44881054-44881104	LNCaP	prostate:	n/a
25	chr10:44881054-44881104	GM19239	blood:	n/a
26	chr10:44880730-44880780	GM19239	blood:	n/a
27	chr10:44880236-44880286	HPAEpiC	pulmonary alveolar:	n/a
28	chr10:44880819-44880869	HRCEpiC	kidney:	n/a
29	chr10:44880128-44880178	U87	brain:	n/a
30	chr10:44880819-44880869	HepG2	liver:	n/a
31	chr10:44882340-44882390	K562	blood:	n/a
32	chr10:44880236-44880286	GM19239	blood:	n/a
33	chr10:44881054-44881104	NT2-D1	testis:	n/a
34	chr10:44882135-44882185	A549	lung:	n/a
35	chr10:44880730-44880780	A549	lung:	n/a
36	chr10:44880819-44880869	AG04450	lung:	fetal
37	chr10:44881551-44881601	LNCaP	prostate:	n/a
38	chr10:44880545-44880595	CMK	blood:	n/a
39	chr10:44881054-44881104	MCF10A-Er-Src	breast:	n/a
40	chr10:44882340-44882390	NB4	blood:	n/a
41	chr10:44881750-44881800	U87	brain:	n/a
42	chr10:44882599-44882649	AoSMC	blood vessel:	n/a
43	chr10:44881934-44881984	AG04449	skin:	fetal
44	chr10:44882135-44882185	AG04449	skin:	fetal
45	chr10:44880559-44880609	HCPEpiC	choroid plexus:	n/a
46	chr10:44881934-44881984	NH-A	brain:	n/a
47	chr10:44882599-44882649	HL-60	blood:	n/a
48	chr10:44881934-44881984	HIPEpiC	eye:	n/a
49	chr10:44881750-44881800	A549	lung:	n/a
50	chr10:44880819-44880869	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44166808..44167608-chr10:44882043..44882606,2	MCF-7	breast:
2	chr10:44882608..44885734-chr10:44887032..44891125,3	MCF-7	breast:
3	chr10:44779480..44780239-chr10:44881943..44882604,2	K562	blood:

Variant related genes	Relation type
CXCL12	TF binding region
CXCL12	CpG island

Extended variants
information (count: 209 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs537979893	chr10:44878863-44878864	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189722138	chr10:44878871-44878872	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556209409	chr10:44878884-44878885	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568723242	chr10:44878918-44878919	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181203634	chr10:44878938-44878939	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59675227	chr10:44878958-44878959	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2483770	chr10:44878959-44878960	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74427555	chr10:44878966-44878967	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369217842	chr10:44878975-44878976	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2489240	chr10:44879000-44879001	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186957086	chr10:44879006-44879007	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534085598	chr10:44879014-44879015	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558304241	chr10:44879050-44879051	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576752230	chr10:44879052-44879053	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191790682	chr10:44879058-44879059	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71020334	chr10:44879059-44879060	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10900033	chr10:44879060-44879061	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562527733	chr10:44879064-44879065	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60154270	chr10:44879071-44879072	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575089061	chr10:44879137-44879138	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542487403	chr10:44879140-44879141	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115389106	chr10:44879142-44879143	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573081582	chr10:44879154-44879155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375353281	chr10:44879180-44879181	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528008936	chr10:44879210-44879211	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186085158	chr10:44879283-44879284	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17880192	chr10:44879375-44879376	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34246951	chr10:44879386-44879387	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531693583	chr10:44879417-44879418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549874521	chr10:44879419-44879420	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559871409	chr10:44879422-44879423	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17881729	chr10:44879507-44879508	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs17878782	chr10:44879536-44879537	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566645600	chr10:44879538-44879539	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113547731	chr10:44879553-44879554	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533871472	chr10:44879561-44879562	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575302270	chr10:44879617-44879618	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34836687	chr10:44879632-44879633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17887234	chr10:44879635-44879636	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576779743	chr10:44879639-44879640	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537793436	chr10:44879702-44879703	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7093481	chr10:44879711-44879712	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17886624	chr10:44879726-44879727	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541929740	chr10:44879779-44879780	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189808931	chr10:44879814-44879815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572569473	chr10:44879835-44879836	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546193417	chr10:44879839-44879840	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564757396	chr10:44879872-44879873	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368056537	chr10:44879913-44879914	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372590736	chr10:44879924-44879925	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44860000-44879000	Weak transcription	Gastric	stomach
2	chr10:44874800-44879200	Weak transcription	Aorta	Aorta
3	chr10:44877400-44879200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:44877400-44880400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr10:44877400-44880400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr10:44877600-44879200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:44877600-44879200	Active TSS	Colon Smooth Muscle	Colon
8	chr10:44877600-44879200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
9	chr10:44877600-44879600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
10	chr10:44877600-44880400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr10:44877600-44880800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr10:44877600-44881000	Bivalent/Poised TSS	Fetal Thymus	thymus
13	chr10:44877600-44881200	Active TSS	Rectal Smooth Muscle	rectum
14	chr10:44877600-44881200	Active TSS	Right Atrium	heart
15	chr10:44877800-44879000	Flanking Active TSS	Psoas Muscle	Psoas
16	chr10:44877800-44879200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:44877800-44879200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr10:44877800-44879200	Active TSS	Brain Cingulate Gyrus	brain
19	chr10:44877800-44879200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr10:44877800-44879400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr10:44877800-44879800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:44877800-44880800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr10:44877800-44881000	Active TSS	NHDF-Ad	bronchial
24	chr10:44877800-44881200	Active TSS	Left Ventricle	heart
25	chr10:44877800-44881400	Active TSS	Fetal Kidney	kidney
26	chr10:44878000-44879000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr10:44878000-44879000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr10:44878000-44879000	Active TSS	NHLF	lung
29	chr10:44878000-44879200	Active TSS	Colonic Mucosa	Colon
30	chr10:44878000-44879200	Active TSS	NH-A	brain
31	chr10:44878000-44879800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:44878000-44880200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:44878200-44879000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr10:44878200-44879200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:44878200-44879200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:44878200-44879200	Active TSS	Brain Hippocampus Middle	brain
37	chr10:44878200-44879200	Bivalent Enhancer	Fetal Brain Male	brain
38	chr10:44878200-44879600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:44878200-44879600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr10:44878400-44879000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:44878400-44879000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr10:44878400-44879000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr10:44878400-44879200	Active TSS	Osteobl	bone
44	chr10:44878400-44879400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr10:44878400-44879600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:44878400-44879600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
47	chr10:44878400-44879800	Bivalent/Poised TSS	Spleen	Spleen
48	chr10:44878400-44880000	Active TSS	Brain Substantia Nigra	brain
49	chr10:44878400-44880400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:44878400-44880800	Bivalent/Poised TSS	Fetal Lung	lung

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