Variant report

Variant	nsv933234
Chromosome Location	chr1:196706651-196946907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1054)
CpG islands
(count:1102)
Chromatin interactive
region (count:33)
LncRNA
region (count:34)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1054 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:196856986-196857227	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:196712502-196712701	K562	blood:	n/a	n/a
3	ATF1	chr1:196920683-196920808	K562	blood:	n/a	n/a
4	ATF1	chr1:196945587-196945612	K562	blood:	n/a	n/a
5	ATF2	chr1:196929984-196930356	GM12878	blood:	n/a	n/a
6	ATF2	chr1:196920798-196921176	GM12878	blood:	n/a	n/a
7	ATF2	chr1:196920857-196921198	GM12878	blood:	n/a	n/a
8	BACH1	chr1:196866267-196866431	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr1:196743800-196744098	GM12878	blood:	n/a	chr1:196743977-196743985
10	BATF	chr1:196857035-196857206	GM12878	blood:	n/a	n/a
11	BATF	chr1:196920821-196921204	GM12878	blood:	n/a	n/a
12	BATF	chr1:196856972-196857380	GM12878	blood:	n/a	chr1:196857241-196857249
13	BATF	chr1:196920903-196921118	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:196856976-196857372	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:196930058-196930322	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:196929997-196930352	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:196902803-196903015	K562	blood:	n/a	n/a
18	BHLHE40	chr1:196920921-196921226	GM12878	blood:	n/a	n/a
19	BRCA1	chr1:196937592-196937745	HepG2	liver:	n/a	n/a
20	CBX3	chr1:196902699-196903046	K562	blood:	n/a	n/a
21	CBX3	chr1:196855726-196856081	K562	blood:	n/a	n/a
22	CBX3	chr1:196707787-196708233	K562	blood:	n/a	n/a
23	CBX3	chr1:196902544-196903655	K562	blood:	n/a	n/a
24	CBX3	chr1:196855776-196855984	K562	blood:	n/a	n/a
25	CBX3	chr1:196707919-196708187	K562	blood:	n/a	n/a
26	CCNT2	chr1:196902726-196903313	K562	blood:	n/a	n/a
27	CCNT2	chr1:196931600-196931747	K562	blood:	n/a	n/a
28	CEBPB	chr1:196848074-196848355	IMR90	lung:	n/a	chr1:196848177-196848188
29	CEBPB	chr1:196916603-196916881	A549	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
30	CEBPB	chr1:196868753-196869031	A549	lung:	n/a	n/a
31	CEBPB	chr1:196825893-196826006	K562	blood:	n/a	n/a
32	CEBPB	chr1:196856906-196857273	HepG2	liver:	n/a	chr1:196857077-196857088 chr1:196857110-196857123 chr1:196857112-196857123
33	CEBPB	chr1:196848022-196848331	HepG2	liver:	n/a	chr1:196848177-196848188
34	CEBPB	chr1:196910745-196910996	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:196910749-196910930	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:196848041-196848299	Hela-S3	cervix:	n/a	chr1:196848177-196848188
37	CEBPB	chr1:196916577-196916873	IMR90	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
38	CEBPB	chr1:196916630-196916864	H1-hESC	embryonic stem cell:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
39	CEBPB	chr1:196910739-196910903	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:196792559-196792845	IMR90	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
41	CEBPB	chr1:196916608-196916825	K562	blood:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
42	CEBPB	chr1:196868787-196869010	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr1:196745101-196745132	IMR90	lung:	n/a	n/a
44	CEBPB	chr1:196868749-196868968	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:196792584-196792829	HepG2	liver:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792697-196792706
46	CEBPB	chr1:196825838-196826029	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr1:196916588-196916860	HepG2	liver:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
48	CEBPB	chr1:196910800-196910933	K562	blood:	n/a	n/a
49	CEBPB	chr1:196792658-196792868	A549	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
50	CEBPD	chr1:196910706-196910978	HepG2	liver:	n/a	n/a

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196844364-196844414	AG09309	skin:	n/a
2	chr1:196743672-196743722	Caco-2	colon:	n/a
3	chr1:196743672-196743722	SK-N-SH_RA	brain:	n/a
4	chr1:196946512-196946562	HIPEpiC	eye:	n/a
5	chr1:196844364-196844414	AG09309	skin:	n/a
6	chr1:196743672-196743722	Caco-2	colon:	n/a
7	chr1:196743672-196743722	SK-N-SH_RA	brain:	n/a
8	chr1:196946512-196946562	HIPEpiC	eye:	n/a
9	chr1:196847182-196847232	NHDF-neo	bronchial:	n/a
10	chr1:196911888-196911938	AoSMC	blood vessel:	n/a
11	chr1:196945845-196945895	HCF	heart:	n/a
12	chr1:196946228-196946278	AG04449	skin:	fetal
13	chr1:196866512-196866562	SKMC	muscle:	n/a
14	chr1:196847859-196847909	BJ	skin:	n/a
15	chr1:196847859-196847909	Caco-2	colon:	n/a
16	chr1:196844364-196844414	GM19239	blood:	n/a
17	chr1:196855851-196855901	HRPEpiC	eye:	n/a
18	chr1:196795943-196795993	HIPEpiC	eye:	n/a
19	chr1:196743672-196743722	HAEpiC	amniotic membrane:	n/a
20	chr1:196946512-196946562	HRE	kidney:	n/a
21	chr1:196865686-196865736	AG04450	lung:	fetal
22	chr1:196923877-196923927	A549	lung:	n/a
23	chr1:196902941-196902991	AoSMC	blood vessel:	n/a
24	chr1:196946228-196946278	BE2_C	brain:	n/a
25	chr1:196945845-196945895	HIPEpiC	eye:	n/a
26	chr1:196743672-196743722	AG04449	skin:	fetal
27	chr1:196844364-196844414	PANC-1	pancreas:	n/a
28	chr1:196844364-196844414	HEEpiC	esophagus:	n/a
29	chr1:196923877-196923927	K562	blood:	n/a
30	chr1:196787850-196787900	SKMC	muscle:	n/a
31	chr1:196743672-196743722	HCF	heart:	n/a
32	chr1:196847182-196847232	A549	lung:	n/a
33	chr1:196865686-196865736	AoSMC	blood vessel:	n/a
34	chr1:196787850-196787900	HEK293	kidney:	embryo
35	chr1:196865686-196865736	H1-hESC	embryonic stem cell:	embryo
36	chr1:196911888-196911938	HEEpiC	esophagus:	n/a
37	chr1:196911888-196911938	GM12891	blood:	n/a
38	chr1:196945845-196945895	NHDF-neo	bronchial:	n/a
39	chr1:196787850-196787900	A549	lung:	n/a
40	chr1:196923877-196923927	GM12891	blood:	n/a
41	chr1:196911888-196911938	AG09319	gingival:	n/a
42	chr1:196923877-196923927	Jurkat	blood:	n/a
43	chr1:196865686-196865736	NHBE	bronchial:	n/a
44	chr1:196847859-196847909	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:196902941-196902991	AG09319	gingival:	n/a
46	chr1:196865686-196865736	NH-A	brain:	n/a
47	chr1:196866322-196866372	H1-hESC	embryonic stem cell:	embryo
48	chr1:196866512-196866562	SAEC	small airway:	n/a
49	chr1:196902941-196902991	GM12892	blood:	n/a
50	chr1:196902941-196902991	Hepatocyte	liver:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196738269..196739930-chr1:196742962..196745311,2	MCF-7	breast:
2	chr1:196692236..196693111-chr1:196859470..196860182,3	MCF-7	breast:
3	chr1:196712193..196713017-chr1:197326079..197326750,3	MCF-7	breast:
4	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
5	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
6	chr1:196874466..196877134-chr1:196878401..196880151,2	MCF-7	breast:
7	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
8	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
9	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
10	chr1:196874466..196877134-chr1:196878401..196880151,2	MCF-7	breast:
11	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
12	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
13	chr1:196866686..196869291-chr1:196870395..196872004,2	K562	blood:
14	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
15	chr1:196919526..196921876-chr1:197123089..197124599,2	K562	blood:
16	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
17	chr1:196863909..196866784-chr1:196987706..196990469,2	K562	blood:
18	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
19	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
20	chr1:196866686..196869291-chr1:196870395..196872004,2	K562	blood:
21	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
22	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
23	chr1:196712121..196712996-chr1:197035666..197036522,2	MCF-7	breast:
24	chr1:196821183..196821683-chr13:114578689..114579580,2	NB4	blood:
25	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
26	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
27	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
28	chr1:196286813..196287729-chr1:196859599..196860261,2	MCF-7	breast:
29	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
30	chr1:196700723..196702673-chr1:196877017..196878794,2	K562	blood:
31	chr1:196870703..196871324-chr2:207697433..207698180,2	MCF-7	breast:
32	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
33	chr1:196852522..196854884-chr1:197003323..197006250,2	K562	blood:

(count:34 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008609
2	lnc-F13B-1	chr1:196834519-196834621	NONHSAT008604
3	lnc-CFHR5-1	chr1:196919982-196920069	NONHSAT008607
4	lnc-CFHR2-1	chr1:196788995-196789032	NONHSAT008602
5	lnc-CFHR5-1	chr1:196919982-196920157	NONHSAT008606
6	lnc-CFHR2-1	chr1:196788952-196789032	NONHSAT008601
7	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008603
8	lnc-CFHR2-1	chr1:196790015-196790332	NONHSAT008601
9	lnc-CFHR1-1	chr1:196758890-196759357	NONHSAT008599
10	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008606
11	lnc-CFHR5-1	chr1:196919982-196920158	NONHSAT008608
12	lnc-CFHR5-1	chr1:196928011-196928345	NONHSAT008609
13	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008605
14	lnc-CFHR1-1	chr1:196762447-196762763	NONHSAT008599
15	lnc-CFHR5-1	chr1:196928011-196928178	NONHSAT008605
16	lnc-CFHR5-1	chr1:196918566-196918779	NONHSAT008607
17	lnc-CFHR2-1	chr1:196797200-196797297	NONHSAT008603
18	lnc-CFHR2-1	chr1:196788893-196789032	NONHSAT008600
19	lnc-F13B-1	chr1:196833477-196833736	NONHSAT008604
20	lnc-CFHR5-1	chr1:196920030-196920158	NONHSAT008605
21	lnc-CFHR5-1	chr1:196912988-196913068	NONHSAT008609
22	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008608
23	lnc-CFHR2-1	chr1:196794354-196794801	NONHSAT008603
24	lnc-CFHR5-1	chr1:196918585-196918779	NONHSAT008605
25	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008600
26	lnc-CFHR5-1	chr1:196912947-196913068	NONHSAT008607
27	lnc-CFHR2-1	chr1:196797200-196797225	NONHSAT008600
28	lnc-CFHR2-1	chr1:196794607-196794801	NONHSAT008600
29	lnc-CFHR5-1	chr1:196928011-196928349	NONHSAT008608
30	lnc-CFHR5-1	chr1:196912957-196913068	NONHSAT008608
31	lnc-CFHR2-1	chr1:196797280-196797376	NONHSAT008600
32	lnc-CFHR5-1	chr1:196918747-196918779	NONHSAT008606
33	lnc-CFHR2-1	chr1:196794607-196795156	NONHSAT008602
34	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008605

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CFH	hsa-miR-146a-5p	chr1:196716478-196716499

Variant related genes	Relation type
CFHR4	TF binding region
CFHR2	TF binding region
CFHR1	TF binding region
CFHR5	TF binding region
CFHR3	TF binding region
CFHR4	CpG island
CFHR2	CpG island
CFHR1	CpG island
CFHR5	CpG island
CFHR3	CpG island
ENSG00000143278	chromatin interactions
ENSG00000116785	chromatin interactions

Extended variants
information (count: 5849 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:5849 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114743644	chr1:196706659-196706660	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375439160	chr1:196706672-196706673	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs515299	chr1:196706677-196706678	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs151068461	chr1:196706683-196706684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577301338	chr1:196706687-196706688	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs121913057	chr1:196706705-196706706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs150202638	chr1:196706713-196706714	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141910168	chr1:196706774-196706775	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368846503	chr1:196706775-196706776	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375805651	chr1:196706859-196706860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11799956	chr1:196706866-196706867	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs56152784	chr1:196706902-196706903	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574742690	chr1:196706937-196706938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs184739862	chr1:196706945-196706946	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34344258	chr1:196706977-196706978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188732309	chr1:196707007-196707008	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543879	chr1:196707015-196707016	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35700477	chr1:196707046-196707047	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs56326601	chr1:196707069-196707070	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532208871	chr1:196707073-196707074	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547180443	chr1:196707096-196707097	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113812376	chr1:196707100-196707101	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373482653	chr1:196707158-196707159	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146757022	chr1:196707172-196707173	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529679691	chr1:196707173-196707174	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185074605	chr1:196707202-196707203	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs537435073	chr1:196707219-196707220	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs548467908	chr1:196707270-196707271	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs34807691	chr1:196707336-196707337	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189973793	chr1:196707361-196707362	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs150189973	chr1:196707376-196707377	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs145732325	chr1:196707389-196707390	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs116723052	chr1:196707667-196707668	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs422682	chr1:196707685-196707686	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181319806	chr1:196707715-196707716	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542272777	chr1:196707739-196707740	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554888675	chr1:196707818-196707819	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576371176	chr1:196707846-196707847	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111638354	chr1:196707895-196707896	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35331736	chr1:196707901-196707902	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532218192	chr1:196707914-196707915	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541113251	chr1:196707916-196707917	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188306968	chr1:196707948-196707949	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552871264	chr1:196708023-196708024	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180710653	chr1:196708024-196708025	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187651014	chr1:196708026-196708027	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147066775	chr1:196708031-196708032	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552596930	chr1:196708052-196708053	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574812747	chr1:196708055-196708056	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116506498	chr1:196708081-196708082	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196649600-196707200	Weak transcription	Osteobl	bone
2	chr1:196678600-196707000	Weak transcription	HSMMtube	muscle
3	chr1:196685600-196706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:196690800-196707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:196691200-196718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:196693000-196707800	Weak transcription	Lung	lung
7	chr1:196693200-196707800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:196693600-196707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:196693600-196707000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:196695600-196707600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:196699200-196707200	Weak transcription	Adipose Nuclei	Adipose
12	chr1:196701200-196707000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:196701800-196707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:196702200-196707200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:196702800-196707200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:196702800-196709600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:196703800-196707000	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:196703800-196707800	Weak transcription	Small Intestine	intestine
19	chr1:196704600-196707200	Strong transcription	Liver	Liver
20	chr1:196705200-196707200	Weak transcription	NH-A	brain
21	chr1:196705400-196709600	ZNF genes & repeats	Dnd41	blood
22	chr1:196706000-196708000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:196706000-196710600	Strong transcription	HSMM	muscle
24	chr1:196706000-196711400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:196706200-196709000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:196706600-196707400	Strong transcription	Ovary	ovary
27	chr1:196706600-196707400	Strong transcription	Psoas Muscle	Psoas
28	chr1:196706600-196709200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr1:196706600-196709400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:196706600-196710200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:196706800-196709200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:196707000-196707200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:196707000-196707200	ZNF genes & repeats	HSMMtube	muscle
34	chr1:196707000-196708400	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr1:196707000-196708800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:196707000-196709000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr1:196707000-196709400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:196707000-196709400	Weak transcription	K562	blood
39	chr1:196707200-196707600	Transcr. at gene 5' and 3'	Liver	Liver
40	chr1:196707200-196707800	ZNF genes & repeats	NH-A	brain
41	chr1:196707200-196708200	ZNF genes & repeats	Osteobl	bone
42	chr1:196707200-196708400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr1:196707200-196708800	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr1:196707200-196708800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr1:196707200-196709000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr1:196707200-196709200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr1:196707400-196708000	ZNF genes & repeats	Fetal Lung	lung
48	chr1:196707400-196708400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr1:196707400-196708400	ZNF genes & repeats	Ovary	ovary
50	chr1:196707400-196722400	Weak transcription	Psoas Muscle	Psoas

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