Variant report

Variant	nsv1014705
Chromosome Location	chr1:10703941-10840824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2085)
CpG islands
(count:8249)
Chromatin interactive
region (count:230)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2085 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:10739699-10740090	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:10777365-10777652	K562	blood:	n/a	n/a
3	ARID3A	chr1:10739738-10739938	K562	blood:	n/a	n/a
4	ARID3A	chr1:10746020-10747010	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:10791060-10791514	HepG2	liver:	n/a	n/a
6	ATF1	chr1:10777412-10777648	K562	blood:	n/a	n/a
7	ATF1	chr1:10706410-10706754	K562	blood:	n/a	n/a
8	ATF2	chr1:10739666-10740097	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:10739634-10740012	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr1:10706380-10706785	K562	blood:	n/a	n/a
11	ATF3	chr1:10706374-10706728	K562	blood:	n/a	n/a
12	ATF3	chr1:10711894-10712078	K562	blood:	n/a	n/a
13	ATF3	chr1:10795000-10795326	K562	blood:	n/a	n/a
14	BACH1	chr1:10788799-10788909	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:10764501-10765022	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr1:10753920-10754204	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:10754909-10755258	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr1:10839402-10839445	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr1:10709033-10709307	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr1:10710049-10710152	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr1:10751781-10752012	GM12878	blood:	n/a	chr1:10751881-10751889
22	BATF	chr1:10751717-10752059	GM12878	blood:	n/a	chr1:10751881-10751889
23	BATF	chr1:10753514-10753789	GM12878	blood:	n/a	n/a
24	BCL3	chr1:10711104-10711370	GM12878	blood:	n/a	n/a
25	BCL3	chr1:10722391-10722933	GM12878	blood:	n/a	n/a
26	BCL3	chr1:10837645-10838744	GM12878	blood:	n/a	chr1:10837916-10837925
27	BCL3	chr1:10837679-10838412	GM12878	blood:	n/a	chr1:10837916-10837925
28	BCL3	chr1:10722400-10722952	GM12878	blood:	n/a	n/a
29	BCL3	chr1:10711172-10711384	GM12878	blood:	n/a	n/a
30	BHLHE40	chr1:10745752-10746071	K562	blood:	n/a	chr1:10745933-10745942 chr1:10745934-10745943 chr1:10746013-10746029 chr1:10745934-10745943 chr1:10745935-10745944
31	BHLHE40	chr1:10752599-10752766	K562	blood:	n/a	n/a
32	BHLHE40	chr1:10739818-10739897	K562	blood:	n/a	n/a
33	BHLHE40	chr1:10764322-10764864	HepG2	liver:	n/a	n/a
34	BHLHE40	chr1:10706431-10706689	K562	blood:	n/a	n/a
35	BHLHE40	chr1:10797447-10797691	K562	blood:	n/a	n/a
36	BHLHE40	chr1:10704722-10704778	K562	blood:	n/a	n/a
37	BHLHE40	chr1:10764023-10764249	K562	blood:	n/a	n/a
38	BHLHE40	chr1:10745723-10746597	HepG2	liver:	n/a	chr1:10745933-10745942 chr1:10745934-10745943 chr1:10746013-10746029 chr1:10745934-10745943 chr1:10745935-10745944
39	BHLHE40	chr1:10806161-10806358	K562	blood:	n/a	n/a
40	BHLHE40	chr1:10826072-10826448	K562	blood:	n/a	n/a
41	BHLHE40	chr1:10750610-10750752	K562	blood:	n/a	n/a
42	BHLHE40	chr1:10793966-10794468	GM12878	blood:	n/a	n/a
43	BHLHE40	chr1:10830951-10831119	K562	blood:	n/a	n/a
44	BHLHE40	chr1:10722323-10722716	K562	blood:	n/a	n/a
45	BRCA1	chr1:10753893-10754093	Hela-S3	cervix:	n/a	chr1:10754024-10754033
46	BRCA1	chr1:10752620-10752670	HepG2	liver:	n/a	n/a
47	BRCA1	chr1:10764695-10764882	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr1:10737875-10737890	HepG2	liver:	n/a	n/a
49	BRCA1	chr1:10753973-10754071	HepG2	liver:	n/a	chr1:10754024-10754033
50	CBX3	chr1:10750531-10750928	K562	blood:	n/a	n/a

(count:8249 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10784363-10784413	BE2_C	brain:	n/a
2	chr1:10726728-10726778	HCM	heart:	n/a
3	chr1:10734693-10734743	NHDF-neo	bronchial:	n/a
4	chr1:10717077-10717127	HMEC	breast:	n/a
5	chr1:10784363-10784413	U87	brain:	n/a
6	chr1:10725332-10725382	HCM	heart:	n/a
7	chr1:10720269-10720319	NHDF-neo	bronchial:	n/a
8	chr1:10707917-10707967	AG04450	lung:	fetal
9	chr1:10714701-10714751	ProgFib	skin:	n/a
10	chr1:10769910-10769960	A549	lung:	n/a
11	chr1:10726728-10726778	Hela-S3	cervix:	n/a
12	chr1:10839450-10839500	ECC-1	luminal epithelium:	n/a
13	chr1:10720368-10720418	H1-hESC	embryonic stem cell:	embryo
14	chr1:10720993-10721043	IMR90	lung:	fetal
15	chr1:10784363-10784413	BE2_C	brain:	n/a
16	chr1:10726728-10726778	HCM	heart:	n/a
17	chr1:10734693-10734743	NHDF-neo	bronchial:	n/a
18	chr1:10717077-10717127	HMEC	breast:	n/a
19	chr1:10784363-10784413	U87	brain:	n/a
20	chr1:10725332-10725382	HCM	heart:	n/a
21	chr1:10720269-10720319	NHDF-neo	bronchial:	n/a
22	chr1:10707917-10707967	AG04450	lung:	fetal
23	chr1:10714701-10714751	ProgFib	skin:	n/a
24	chr1:10769910-10769960	A549	lung:	n/a
25	chr1:10726728-10726778	Hela-S3	cervix:	n/a
26	chr1:10839450-10839500	ECC-1	luminal epithelium:	n/a
27	chr1:10720368-10720418	H1-hESC	embryonic stem cell:	embryo
28	chr1:10720993-10721043	IMR90	lung:	fetal
29	chr1:10715690-10715740	MCF-7	breast:	n/a
30	chr1:10723630-10723680	HepG2	liver:	n/a
31	chr1:10764512-10764562	NHDF-neo	bronchial:	n/a
32	chr1:10705842-10705892	Jurkat	blood:	n/a
33	chr1:10714469-10714519	BJ	skin:	n/a
34	chr1:10815522-10815572	HMEC	breast:	n/a
35	chr1:10804939-10804989	HAEpiC	amniotic membrane:	n/a
36	chr1:10789713-10789763	AG09319	gingival:	n/a
37	chr1:10714469-10714519	HRPEpiC	eye:	n/a
38	chr1:10752632-10752682	SK-N-SH	brain:	n/a
39	chr1:10718221-10718271	SK-N-SH_RA	brain:	n/a
40	chr1:10730684-10730734	SKMC	muscle:	n/a
41	chr1:10704886-10704936	NHDF-neo	bronchial:	n/a
42	chr1:10708003-10708053	SKMC	muscle:	n/a
43	chr1:10802080-10802130	AG09319	gingival:	n/a
44	chr1:10764886-10764936	BE2_C	brain:	n/a
45	chr1:10754156-10754206	SK-N-SH_RA	brain:	n/a
46	chr1:10794229-10794279	AG10803	skin:	n/a
47	chr1:10713944-10713994	HAEpiC	amniotic membrane:	n/a
48	chr1:10758237-10758287	HRE	kidney:	n/a
49	chr1:10820488-10820538	HAEpiC	amniotic membrane:	n/a
50	chr1:10707953-10708003	HRCEpiC	kidney:	n/a

(count:230 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr1:10827601..10830350-chr1:10831013..10832657,2	K562	blood:
2	chr1:10770692..10771316-chr1:10810904..10811625,4	MCF-7	breast:
3	chr1:10738789..10740392-chr1:10741913..10744233,2	MCF-7	breast:
4	chr1:10814415..10817304-chr1:10845859..10848548,2	K562	blood:
5	chr1:10758262..10760519-chr1:10763379..10765606,2	MCF-7	breast:
6	chr1:10742297..10745036-chr1:10749705..10751341,3	MCF-7	breast:
7	chr1:10785941..10789087-chr1:10792936..10795105,3	K562	blood:
8	chr1:10739997..10741906-chr1:10786836..10789661,2	MCF-7	breast:
9	chr1:10777259..10780263-chr1:10782530..10785488,3	K562	blood:
10	chr1:10757865..10759730-chr1:10835841..10837432,3	MCF-7	breast:
11	chr1:10766203..10768945-chr1:10775376..10776882,2	MCF-7	breast:
12	chr1:10739929..10741898-chr1:10854079..10856532,2	MCF-7	breast:
13	chr1:10837061..10839870-chr1:10864060..10865858,2	MCF-7	breast:
14	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
15	chr1:10715958..10718705-chr1:10751486..10753340,2	K562	blood:
16	chr1:10795633..10796463-chr1:10810924..10811751,4	MCF-7	breast:
17	chr1:10816579..10818238-chr1:10819004..10821212,2	K562	blood:
18	chr1:10772697..10775308-chr1:10780608..10782302,2	MCF-7	breast:
19	chr1:10814274..10817978-chr1:10818873..10822050,5	K562	blood:
20	chr1:10490627..10493070-chr1:10755495..10757962,2	MCF-7	breast:
21	chr1:10738414..10740371-chr1:10749837..10752208,2	MCF-7	breast:
22	chr1:10757865..10759730-chr1:10835841..10837432,3	MCF-7	breast:
23	chr1:10753350..10756890-chr1:10792534..10795103,3	K562	blood:
24	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
25	chr1:10754807..10756455-chr1:10925799..10928452,2	MCF-7	breast:
26	chr1:10798503..10801151-chr1:10807014..10809995,2	K562	blood:
27	chr1:10685463..10687143-chr1:10735500..10738364,2	K562	blood:
28	chr1:10777007..10778883-chr1:10781713..10785066,3	K562	blood:
29	chr1:10754244..10754954-chr1:32645198..32646026,2	NB4	blood:
30	chr1:10733440..10737843-chr1:10738072..10740756,3	K562	blood:
31	chr1:10789630..10791683-chr1:10843060..10845092,2	MCF-7	breast:
32	chr1:10708228..10710600-chr1:10848696..10851530,2	K562	blood:
33	chr1:10659595..10662178-chr1:10730395..10732793,2	MCF-7	breast:
34	chr1:10766508..10770411-chr1:10778762..10780630,3	MCF-7	breast:
35	chr1:10698140..10700728-chr1:10703080..10705863,3	K562	blood:
36	chr1:10751847..10753495-chr1:10763556..10766439,2	K562	blood:
37	chr1:10782189..10784150-chr1:10795398..10797015,2	K562	blood:
38	chr1:10784744..10785323-chr1:10795558..10796339,2	MCF-7	breast:
39	chr1:10752106..10752658-chr1:10848551..10849222,2	MCF-7	breast:
40	chr1:10781321..10784166-chr1:10789319..10791144,2	K562	blood:
41	chr1:10831339..10831839-chr21:47648766..47649375,2	NB4	blood:
42	chr1:10821458..10823218-chr1:10823371..10825859,2	K562	blood:
43	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:
44	chr1:10793053..10795572-chr1:10798812..10801250,2	K562	blood:
45	chr1:10823554..10826412-chr1:10827937..10829720,3	K562	blood:
46	chr1:10744767..10746959-chr1:10754994..10757049,2	K562	blood:
47	chr1:10816579..10818238-chr1:10819004..10821212,2	K562	blood:
48	chr1:10813459..10815846-chr1:10840414..10843318,2	MCF-7	breast:
49	chr1:10825621..10828554-chr1:10840035..10841638,2	MCF-7	breast:
50	chr1:10741683..10743188-chr1:10744761..10747734,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DFFA-9	chr1:10764253-10764619	NONHSAT000868
2	lnc-PEX14-7	chr1:10758720-10758975	uc_7_+
3	lnc-PEX14-4	chr1:10703938-10704151	uc_5_+
4	lnc-DFFA-8	chr1:10758720-10758975	uc_7_-
5	lnc-DFFA-7	chr1:10717708-10718008	uc_6_-
6	lnc-C1orf127-2	chr1:10774405-10774620	uc_8_-
7	lnc-DFFA-6	chr1:10710998-10711157	NONHSAT000867
8	lnc-PEX14-8	chr1:10774405-10774620	uc_8_+
9	lnc-DFFA-9	chr1:10765549-10765632	NONHSAT000868
10	lnc-DFFA-6	chr1:10710541-10710812	NONHSAT000867
11	lnc-PEX14-6	chr1:10717708-10718008	uc_6_+
12	lnc-DFFA-5	chr1:10703938-10704151	uc_5_-

No data

Variant related genes	Relation type
CASZ1	TF binding region
CASZ1	CpG island
ENSG00000084652	chromatin interactions
ENSG00000121741	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000271989	chromatin interactions
ENSG00000130940	chromatin interactions
ENSG00000116649	chromatin interactions
ENSG00000108298	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000156011	chromatin interactions
ENSG00000251503	chromatin interactions
ENSG00000175279	chromatin interactions
ENSG00000272078	chromatin interactions

Extended variants
information (count: 5910 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:5910 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562688973	chr1:10703971-10703972	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs377141215	chr1:10704010-10704011	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs529992712	chr1:10704028-10704029	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs575530102	chr1:10704034-10704035	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs284246	chr1:10704070-10704071	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370464789	chr1:10704086-10704087	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs12076269	chr1:10704125-10704126	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs532754093	chr1:10704129-10704130	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs548068996	chr1:10704131-10704132	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs142649357	chr1:10704157-10704158	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530076127	chr1:10704191-10704192	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535299705	chr1:10704210-10704211	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548264840	chr1:10704248-10704249	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570068391	chr1:10704255-10704256	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537141568	chr1:10704267-10704268	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548145574	chr1:10704326-10704327	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570265722	chr1:10704402-10704403	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567657066	chr1:10704403-10704404	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534521627	chr1:10704410-10704411	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186648018	chr1:10704420-10704421	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574667562	chr1:10704481-10704482	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535771184	chr1:10704536-10704537	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs72858515	chr1:10704547-10704548	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74925357	chr1:10704566-10704567	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75081913	chr1:10704629-10704630	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564177194	chr1:10704631-10704632	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs367551638	chr1:10704656-10704657	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577478930	chr1:10704677-10704678	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11587145	chr1:10704688-10704689	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375423124	chr1:10704700-10704701	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192674627	chr1:10704725-10704726	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560015866	chr1:10704747-10704748	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368095233	chr1:10704807-10704808	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144925753	chr1:10704820-10704821	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs548905818	chr1:10704859-10704860	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374300397	chr1:10704869-10704870	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183815314	chr1:10704884-10704885	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs4845940	chr1:10704888-10704889	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188758546	chr1:10704902-10704903	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570629736	chr1:10704915-10704916	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376464364	chr1:10704923-10704924	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs534483901	chr1:10704953-10704954	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs546369717	chr1:10704954-10704955	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs115739667	chr1:10704968-10704969	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369753421	chr1:10704993-10704994	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs202119857	chr1:10705025-10705026	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200974627	chr1:10705028-10705029	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs373938386	chr1:10705030-10705031	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373248558	chr1:10705035-10705036	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375565840	chr1:10705100-10705101	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4231 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:10691600-10706000	Weak transcription	Dnd41	blood
3	chr1:10696200-10704000	Weak transcription	HSMMtube	muscle
4	chr1:10697400-10722000	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:10698200-10713600	Weak transcription	Small Intestine	intestine
6	chr1:10698600-10705600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:10698800-10704600	Weak transcription	Primary B cells from cord blood	blood
8	chr1:10698800-10704600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:10698800-10726400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:10698800-10752000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:10699000-10712400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:10699000-10713600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:10699000-10714000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:10699000-10723000	Weak transcription	Psoas Muscle	Psoas
15	chr1:10699400-10709600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr1:10699400-10709800	Strong transcription	Colonic Mucosa	Colon
17	chr1:10700000-10704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:10700000-10706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:10700000-10707600	Weak transcription	Primary T cells from cord blood	blood
20	chr1:10700200-10708600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:10700200-10709400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:10700400-10722800	Weak transcription	Ovary	ovary
23	chr1:10701000-10706200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:10701200-10705600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:10701200-10706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:10701200-10706200	Weak transcription	Right Atrium	heart
27	chr1:10701400-10708600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:10701400-10708800	Weak transcription	Brain Germinal Matrix	brain
29	chr1:10701400-10709400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:10701600-10704000	Strong transcription	Esophagus	oesophagus
31	chr1:10701600-10705400	Strong transcription	Liver	Liver
32	chr1:10701600-10709400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:10701600-10709800	Strong transcription	Pancreas	Pancrea
34	chr1:10701800-10704200	Genic enhancers	Stomach Smooth Muscle	stomach
35	chr1:10701800-10704600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:10701800-10706200	Strong transcription	Left Ventricle	heart
37	chr1:10701800-10708200	Strong transcription	Aorta	Aorta
38	chr1:10701800-10709400	Strong transcription	Fetal Intestine Small	intestine
39	chr1:10702000-10704400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:10702000-10704600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:10702000-10706400	Strong transcription	Thymus	Thymus
42	chr1:10702200-10704400	ZNF genes & repeats	Fetal Stomach	stomach
43	chr1:10702200-10704400	Weak transcription	Stomach Mucosa	stomach
44	chr1:10702200-10706200	Strong transcription	Gastric	stomach
45	chr1:10702200-10706200	Strong transcription	Right Ventricle	heart
46	chr1:10702200-10709800	Strong transcription	Fetal Intestine Large	intestine
47	chr1:10702600-10706600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:10702600-10707200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:10702600-10721600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:10703000-10704400	Genic enhancers	Lung	lung

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