Variant report

Variant	nsv535260
Chromosome Location	chr1:196697954-196944678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1156)
CpG islands
(count:916)
Chromatin interactive
region (count:39)
LncRNA
region (count:34)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

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	ATF2	chr1:196929984-196930356	GM12878	blood:	n/a	n/a
5	ATF2	chr1:196920857-196921198	GM12878	blood:	n/a	n/a
6	ATF2	chr1:196920798-196921176	GM12878	blood:	n/a	n/a
7	BACH1	chr1:196866267-196866431	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr1:196856972-196857380	GM12878	blood:	n/a	chr1:196857241-196857249
9	BATF	chr1:196920821-196921204	GM12878	blood:	n/a	n/a
10	BATF	chr1:196743800-196744098	GM12878	blood:	n/a	chr1:196743977-196743985
11	BATF	chr1:196857035-196857206	GM12878	blood:	n/a	n/a
12	BATF	chr1:196920903-196921118	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:196856976-196857372	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:196930058-196930322	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:196929997-196930352	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:196920921-196921226	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:196902803-196903015	K562	blood:	n/a	n/a
18	BRCA1	chr1:196937592-196937745	HepG2	liver:	n/a	n/a
19	CBX3	chr1:196902699-196903046	K562	blood:	n/a	n/a
20	CBX3	chr1:196707919-196708187	K562	blood:	n/a	n/a
21	CBX3	chr1:196707787-196708233	K562	blood:	n/a	n/a
22	CBX3	chr1:196902544-196903655	K562	blood:	n/a	n/a
23	CBX3	chr1:196855776-196855984	K562	blood:	n/a	n/a
24	CBX3	chr1:196855726-196856081	K562	blood:	n/a	n/a
25	CCNT2	chr1:196902726-196903313	K562	blood:	n/a	n/a
26	CCNT2	chr1:196931600-196931747	K562	blood:	n/a	n/a
27	CEBPB	chr1:196916577-196916873	IMR90	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
28	CEBPB	chr1:196745101-196745132	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:196868787-196869010	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:196916603-196916881	A549	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
31	CEBPB	chr1:196848041-196848299	Hela-S3	cervix:	n/a	chr1:196848177-196848188
32	CEBPB	chr1:196792559-196792845	IMR90	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
33	CEBPB	chr1:196916630-196916864	H1-hESC	embryonic stem cell:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
34	CEBPB	chr1:196910749-196910930	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:196910800-196910933	K562	blood:	n/a	n/a
36	CEBPB	chr1:196856906-196857273	HepG2	liver:	n/a	chr1:196857077-196857088 chr1:196857110-196857123 chr1:196857112-196857123
37	CEBPB	chr1:196868753-196869031	A549	lung:	n/a	n/a
38	CEBPB	chr1:196916588-196916860	HepG2	liver:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
39	CEBPB	chr1:196868749-196868968	IMR90	lung:	n/a	n/a
40	CEBPB	chr1:196848022-196848331	HepG2	liver:	n/a	chr1:196848177-196848188
41	CEBPB	chr1:196825893-196826006	K562	blood:	n/a	n/a
42	CEBPB	chr1:196910739-196910903	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:196848074-196848355	IMR90	lung:	n/a	chr1:196848177-196848188
44	CEBPB	chr1:196792658-196792868	A549	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
45	CEBPB	chr1:196916608-196916825	K562	blood:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
46	CEBPB	chr1:196910745-196910996	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:196825838-196826029	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr1:196792584-196792829	HepG2	liver:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792697-196792706
49	CEBPD	chr1:196910706-196910978	HepG2	liver:	n/a	n/a
50	CTCF	chr1:196871740-196871890	A549	lung:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196902941-196902991	Hepatocyte	liver:	n/a
2	chr1:196902941-196902991	Hepatocyte	liver:	n/a
3	chr1:196865686-196865736	MCF10A-Er-Src	breast:	n/a
4	chr1:196923877-196923927	IMR90	lung:	fetal
5	chr1:196787850-196787900	HIPEpiC	eye:	n/a
6	chr1:196743672-196743722	MCF10A-Er-Src	breast:	n/a
7	chr1:196847859-196847909	AG09309	skin:	n/a
8	chr1:196866322-196866372	CMK	blood:	n/a
9	chr1:196746875-196746925	HEEpiC	esophagus:	n/a
10	chr1:196902941-196902991	HCF	heart:	n/a
11	chr1:196902941-196902991	AG04449	skin:	fetal
12	chr1:196923877-196923927	HEEpiC	esophagus:	n/a
13	chr1:196746875-196746925	AG09309	skin:	n/a
14	chr1:196911888-196911938	Hepatocyte	liver:	n/a
15	chr1:196702931-196702981	PrEC	prostate:	n/a
16	chr1:196795943-196795993	SK-N-MC	brain:	n/a
17	chr1:196746875-196746925	HCT-116	colon:	n/a
18	chr1:196923877-196923927	NH-A	brain:	n/a
19	chr1:196902941-196902991	GM12892	blood:	n/a
20	chr1:196911888-196911938	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:196911888-196911938	HepG2	liver:	n/a
22	chr1:196844364-196844414	SKMC	muscle:	n/a
23	chr1:196746875-196746925	PrEC	prostate:	n/a
24	chr1:196855851-196855901	HMEC	breast:	n/a
25	chr1:196855851-196855901	BE2_C	brain:	n/a
26	chr1:196866322-196866372	MCF-7	breast:	n/a
27	chr1:196844364-196844414	Jurkat	blood:	n/a
28	chr1:196844364-196844414	NHBE	bronchial:	n/a
29	chr1:196743672-196743722	HNPCEpiC	eye:	n/a
30	chr1:196702931-196702981	IMR90	lung:	fetal
31	chr1:196865686-196865736	RPTEC	kidney:	n/a
32	chr1:196847182-196847232	AG10803	skin:	n/a
33	chr1:196902941-196902991	PrEC	prostate:	n/a
34	chr1:196746875-196746925	HMEC	breast:	n/a
35	chr1:196866322-196866372	GM12878	blood:	n/a
36	chr1:196844364-196844414	HRCEpiC	kidney:	n/a
37	chr1:196844364-196844414	AG04450	lung:	fetal
38	chr1:196787850-196787900	BJ	skin:	n/a
39	chr1:196787850-196787900	HAEpiC	amniotic membrane:	n/a
40	chr1:196866322-196866372	Hela-S3	cervix:	n/a
41	chr1:196865686-196865736	A549	lung:	n/a
42	chr1:196787850-196787900	U87	brain:	n/a
43	chr1:196911888-196911938	NHDF-neo	bronchial:	n/a
44	chr1:196923877-196923927	GM12891	blood:	n/a
45	chr1:196743672-196743722	GM12892	blood:	n/a
46	chr1:196702931-196702981	HRCEpiC	kidney:	n/a
47	chr1:196847859-196847909	SKMC	muscle:	n/a
48	chr1:196866322-196866372	RPTEC	kidney:	n/a
49	chr1:196866512-196866562	HUVEC	blood vessel:	n/a
50	chr1:196866322-196866372	HAEpiC	amniotic membrane:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196692236..196693111-chr1:196859470..196860182,3	MCF-7	breast:
2	chr1:196866686..196869291-chr1:196870395..196872004,2	K562	blood:
3	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
4	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
5	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
6	chr1:196874466..196877134-chr1:196878401..196880151,2	MCF-7	breast:
7	chr1:196712121..196712996-chr1:197035666..197036522,2	MCF-7	breast:
8	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
9	chr1:196700723..196702673-chr1:196877017..196878794,2	K562	blood:
10	chr1:196700723..196702673-chr1:196877017..196878794,2	K562	blood:
11	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
12	chr1:196697444..196700419-chr1:196700685..196703503,2	K562	blood:
13	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
14	chr1:196863909..196866784-chr1:196987706..196990469,2	K562	blood:
15	chr1:196852522..196854884-chr1:197003323..197006250,2	K562	blood:
16	chr1:196701976..196704900-chr1:197163664..197165558,2	K562	blood:
17	chr1:196697444..196700419-chr1:196700685..196703503,2	K562	blood:
18	chr1:196870703..196871324-chr2:207697433..207698180,2	MCF-7	breast:
19	chr1:196866686..196869291-chr1:196870395..196872004,2	K562	blood:
20	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
21	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
22	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
23	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
24	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
25	chr1:196692213..196693146-chr1:196701336..196702240,4	MCF-7	breast:
26	chr1:196286813..196287729-chr1:196859599..196860261,2	MCF-7	breast:
27	chr1:196919526..196921876-chr1:197123089..197124599,2	K562	blood:
28	chr1:196712193..196713017-chr1:197326079..197326750,3	MCF-7	breast:
29	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
30	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
31	chr1:196874466..196877134-chr1:196878401..196880151,2	MCF-7	breast:
32	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
33	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
34	chr1:196629812..196630524-chr1:196701384..196702319,3	MCF-7	breast:
35	chr1:196738269..196739930-chr1:196742962..196745311,2	MCF-7	breast:
36	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
37	chr1:196821183..196821683-chr13:114578689..114579580,2	NB4	blood:
38	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
39	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:

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

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

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
CFH	TF binding region
CFHR4	TF binding region
CFHR2	TF binding region
CFHR1	TF binding region
CFHR5	TF binding region
CFHR3	TF binding region
CFH	CpG island
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: 6100 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:6100 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551712748	chr1:196697968-196697969	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575188506	chr1:196698000-196698001	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184358533	chr1:196698029-196698030	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557496547	chr1:196698037-196698038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77302817	chr1:196698083-196698084	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200707080	chr1:196698086-196698087	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190510734	chr1:196698119-196698120	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182460635	chr1:196698126-196698127	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139401651	chr1:196698145-196698146	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564821001	chr1:196698165-196698166	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373871611	chr1:196698190-196698191	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543916762	chr1:196698215-196698216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563152695	chr1:196698223-196698224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145035620	chr1:196698243-196698244	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533700738	chr1:196698248-196698249	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs395544	chr1:196698272-196698273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs436337	chr1:196698284-196698285	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547270156	chr1:196698316-196698317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186155085	chr1:196698317-196698318	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549450180	chr1:196698321-196698322	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190520571	chr1:196698337-196698338	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538218837	chr1:196698345-196698346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549942257	chr1:196698367-196698368	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571324841	chr1:196698390-196698391	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200216900	chr1:196698391-196698392	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34999101	chr1:196698393-196698394	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6689009	chr1:196698463-196698464	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs557634803	chr1:196698484-196698485	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200020001	chr1:196698494-196698495	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564992641	chr1:196698508-196698509	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147572513	chr1:196698571-196698572	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532579968	chr1:196698585-196698586	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547100386	chr1:196698596-196698597	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555436744	chr1:196698606-196698607	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181402428	chr1:196698622-196698623	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142058690	chr1:196698649-196698650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10922107	chr1:196698651-196698652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34734075	chr1:196698652-196698653	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs364947	chr1:196698689-196698690	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs375841877	chr1:196698690-196698691	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1576340	chr1:196698711-196698712	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185637188	chr1:196698905-196698906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374127594	chr1:196698942-196698943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12144939	chr1:196698945-196698946	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs531678217	chr1:196698946-196698947	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539361722	chr1:196698956-196698957	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374886671	chr1:196699009-196699010	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149831013	chr1:196699017-196699018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145548457	chr1:196699018-196699019	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10801558	chr1:196699044-196699045	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:196649600-196707200	Weak transcription	Osteobl	bone
3	chr1:196674000-196706600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:196676000-196700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:196678600-196707000	Weak transcription	HSMMtube	muscle
6	chr1:196685600-196706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:196690800-196701800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:196690800-196707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:196691200-196718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:196693000-196707800	Weak transcription	Lung	lung
11	chr1:196693200-196698800	Weak transcription	Gastric	stomach
12	chr1:196693200-196707800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:196693600-196700200	Weak transcription	Dnd41	blood
14	chr1:196693600-196706000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:196693600-196707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:196693600-196707000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:196693800-196701800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:196694400-196706600	Weak transcription	Psoas Muscle	Psoas
19	chr1:196695600-196698400	Strong transcription	HSMM	muscle
20	chr1:196695600-196707600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:196697400-196699200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:196697600-196701600	Weak transcription	Ovary	ovary
23	chr1:196697800-196699400	Genic enhancers	Liver	Liver
24	chr1:196698400-196701800	Weak transcription	HSMM	muscle
25	chr1:196699200-196701800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:196699200-196707200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:196699400-196700400	Strong transcription	Liver	Liver
28	chr1:196700200-196705400	Strong transcription	Dnd41	blood
29	chr1:196700400-196704600	Genic enhancers	Liver	Liver
30	chr1:196700600-196703800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:196701200-196707000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:196701600-196703800	Strong transcription	Ovary	ovary
33	chr1:196701800-196702000	Enhancers	Colon Smooth Muscle	Colon
34	chr1:196701800-196702200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr1:196701800-196702400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:196701800-196702600	Strong transcription	HSMM	muscle
37	chr1:196701800-196703800	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:196701800-196707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:196702000-196702200	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr1:196702000-196702200	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:196702200-196702600	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr1:196702200-196702800	Active TSS	Colon Smooth Muscle	Colon
43	chr1:196702200-196702800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:196702200-196707200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:196702400-196702800	Active TSS	Stomach Smooth Muscle	stomach
46	chr1:196702400-196706000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:196702600-196702800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:196702600-196703200	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:196702600-196706000	Weak transcription	HSMM	muscle
50	chr1:196702800-196703600	Enhancers	Colon Smooth Muscle	Colon

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