Variant report

Variant	nsv1001720
Chromosome Location	chr1:196658295-196944678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1454)
CpG islands
(count:916)
Chromatin interactive
region (count:45)
LncRNA
region (count:34)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1454 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:196712502-196712701	K562	blood:	n/a	n/a
2	ARID3A	chr1:196856986-196857227	HepG2	liver:	n/a	n/a
3	ATF1	chr1:196677817-196677904	K562	blood:	n/a	n/a
4	ATF1	chr1:196920683-196920808	K562	blood:	n/a	n/a
5	ATF1	chr1:196688114-196688182	K562	blood:	n/a	n/a
6	ATF2	chr1:196929984-196930356	GM12878	blood:	n/a	n/a
7	ATF2	chr1:196920798-196921176	GM12878	blood:	n/a	n/a
8	ATF2	chr1:196920857-196921198	GM12878	blood:	n/a	n/a
9	BACH1	chr1:196866267-196866431	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr1:196920903-196921118	GM12878	blood:	n/a	n/a
11	BATF	chr1:196743800-196744098	GM12878	blood:	n/a	chr1:196743977-196743985
12	BATF	chr1:196920821-196921204	GM12878	blood:	n/a	n/a
13	BATF	chr1:196856972-196857380	GM12878	blood:	n/a	chr1:196857241-196857249
14	BATF	chr1:196857035-196857206	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:196856976-196857372	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:196930058-196930322	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:196920921-196921226	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:196929997-196930352	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:196902803-196903015	K562	blood:	n/a	n/a
20	BRCA1	chr1:196937592-196937745	HepG2	liver:	n/a	n/a
21	CBX3	chr1:196855776-196855984	K562	blood:	n/a	n/a
22	CBX3	chr1:196902699-196903046	K562	blood:	n/a	n/a
23	CBX3	chr1:196855726-196856081	K562	blood:	n/a	n/a
24	CBX3	chr1:196707919-196708187	K562	blood:	n/a	n/a
25	CBX3	chr1:196902544-196903655	K562	blood:	n/a	n/a
26	CBX3	chr1:196707787-196708233	K562	blood:	n/a	n/a
27	CCNT2	chr1:196902726-196903313	K562	blood:	n/a	n/a
28	CCNT2	chr1:196931600-196931747	K562	blood:	n/a	n/a
29	CEBPB	chr1:196668143-196668497	IMR90	lung:	n/a	n/a
30	CEBPB	chr1:196668155-196668522	K562	blood:	n/a	n/a
31	CEBPB	chr1:196825838-196826029	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr1:196848041-196848299	Hela-S3	cervix:	n/a	chr1:196848177-196848188
33	CEBPB	chr1:196910739-196910903	HepG2	liver:	n/a	n/a
34	CEBPB	chr1:196868787-196869010	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:196868749-196868968	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:196916577-196916873	IMR90	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
37	CEBPB	chr1:196792658-196792868	A549	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
38	CEBPB	chr1:196668150-196668503	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:196668180-196668480	MCF-7	breast:	n/a	n/a
40	CEBPB	chr1:196916603-196916881	A549	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
41	CEBPB	chr1:196792559-196792845	IMR90	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
42	CEBPB	chr1:196745101-196745132	IMR90	lung:	n/a	n/a
43	CEBPB	chr1:196916588-196916860	HepG2	liver:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
44	CEBPB	chr1:196848022-196848331	HepG2	liver:	n/a	chr1:196848177-196848188
45	CEBPB	chr1:196792584-196792829	HepG2	liver:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792697-196792706
46	CEBPB	chr1:196916630-196916864	H1-hESC	embryonic stem cell:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
47	CEBPB	chr1:196668165-196668487	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr1:196916608-196916825	K562	blood:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
49	CEBPB	chr1:196910745-196910996	HepG2	liver:	n/a	n/a
50	CEBPB	chr1:196910800-196910933	K562	blood:	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	chr1:196847859-196847909	BJ	skin:	n/a
2	chr1:196847859-196847909	BJ	skin:	n/a
3	chr1:196746875-196746925	T-47D	breast:	n/a
4	chr1:196911888-196911938	SK-N-SH_RA	brain:	n/a
5	chr1:196911888-196911938	AG09319	gingival:	n/a
6	chr1:196911888-196911938	HCF	heart:	n/a
7	chr1:196847859-196847909	MCF10A-Er-Src	breast:	n/a
8	chr1:196866512-196866562	NB4	blood:	n/a
9	chr1:196847182-196847232	AG04449	skin:	fetal
10	chr1:196847859-196847909	HCM	heart:	n/a
11	chr1:196847859-196847909	LNCaP	prostate:	n/a
12	chr1:196865686-196865736	HRCEpiC	kidney:	n/a
13	chr1:196866322-196866372	HNPCEpiC	eye:	n/a
14	chr1:196743672-196743722	A549	lung:	n/a
15	chr1:196795943-196795993	GM06990	blood:	n/a
16	chr1:196866512-196866562	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:196795943-196795993	HUVEC	blood vessel:	n/a
18	chr1:196911888-196911938	GM19239	blood:	n/a
19	chr1:196902941-196902991	ovcar-3	ovarian:	n/a
20	chr1:196923877-196923927	NH-A	brain:	n/a
21	chr1:196847859-196847909	IMR90	lung:	fetal
22	chr1:196795943-196795993	HCPEpiC	choroid plexus:	n/a
23	chr1:196746875-196746925	HIPEpiC	eye:	n/a
24	chr1:196847182-196847232	HRCEpiC	kidney:	n/a
25	chr1:196911888-196911938	BJ	skin:	n/a
26	chr1:196702931-196702981	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:196911888-196911938	GM12891	blood:	n/a
28	chr1:196911888-196911938	HRE	kidney:	n/a
29	chr1:196702931-196702981	HCF	heart:	n/a
30	chr1:196847182-196847232	HCPEpiC	choroid plexus:	n/a
31	chr1:196902941-196902991	GM19239	blood:	n/a
32	chr1:196866322-196866372	ECC-1	luminal epithelium:	n/a
33	chr1:196743672-196743722	GM12892	blood:	n/a
34	chr1:196743672-196743722	HL-60	blood:	n/a
35	chr1:196923877-196923927	NB4	blood:	n/a
36	chr1:196911888-196911938	NT2-D1	testis:	n/a
37	chr1:196866512-196866562	GM19239	blood:	n/a
38	chr1:196702931-196702981	AG09309	skin:	n/a
39	chr1:196847182-196847232	NT2-D1	testis:	n/a
40	chr1:196866322-196866372	Caco-2	colon:	n/a
41	chr1:196923877-196923927	AG09319	gingival:	n/a
42	chr1:196866512-196866562	HL-60	blood:	n/a
43	chr1:196866322-196866372	Hela-S3	cervix:	n/a
44	chr1:196702931-196702981	HEEpiC	esophagus:	n/a
45	chr1:196787850-196787900	MCF10A-Er-Src	breast:	n/a
46	chr1:196746875-196746925	AoSMC	blood vessel:	n/a
47	chr1:196865686-196865736	NB4	blood:	n/a
48	chr1:196702931-196702981	ovcar-3	ovarian:	n/a
49	chr1:196923877-196923927	HRCEpiC	kidney:	n/a
50	chr1:196795943-196795993	GM12878	blood:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196697444..196700419-chr1:196700685..196703503,2	K562	blood:
2	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
3	chr1:196629812..196630524-chr1:196701384..196702319,3	MCF-7	breast:
4	chr1:196692236..196693111-chr1:196859470..196860182,3	MCF-7	breast:
5	chr1:196701976..196704900-chr1:197163664..197165558,2	K562	blood:
6	chr1:196852522..196854884-chr1:197003323..197006250,2	K562	blood:
7	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
8	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
9	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
10	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
11	chr1:196687090..196688977-chr1:196689893..196692748,2	MCF-7	breast:
12	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
13	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
14	chr1:196712193..196713017-chr1:197326079..197326750,3	MCF-7	breast:
15	chr1:196874466..196877134-chr1:196878401..196880151,2	MCF-7	breast:
16	chr1:196919526..196921876-chr1:197123089..197124599,2	K562	blood:
17	chr1:196697444..196700419-chr1:196700685..196703503,2	K562	blood:
18	chr1:196692213..196693146-chr1:196701336..196702240,4	MCF-7	breast:
19	chr1:196866686..196869291-chr1:196870395..196872004,2	K562	blood:
20	chr1:196286813..196287729-chr1:196859599..196860261,2	MCF-7	breast:
21	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
22	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
23	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
24	chr1:196821183..196821683-chr13:114578689..114579580,2	NB4	blood:
25	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
26	chr1:196700723..196702673-chr1:196877017..196878794,2	K562	blood:
27	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
28	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
29	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
30	chr1:196866686..196869291-chr1:196870395..196872004,2	K562	blood:
31	chr1:196692213..196693146-chr1:196701336..196702240,4	MCF-7	breast:
32	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
33	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
34	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
35	chr1:196863909..196866784-chr1:196987706..196990469,2	K562	blood:
36	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
37	chr1:196738269..196739930-chr1:196742962..196745311,2	MCF-7	breast:
38	chr1:196700723..196702673-chr1:196877017..196878794,2	K562	blood:
39	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:
40	chr1:196692236..196693111-chr1:196859470..196860182,3	MCF-7	breast:
41	chr1:196874466..196877134-chr1:196878401..196880151,2	MCF-7	breast:
42	chr1:196870703..196871324-chr2:207697433..207698180,2	MCF-7	breast:
43	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
44	chr1:196712121..196712996-chr1:197035666..197036522,2	MCF-7	breast:
45	chr1:196687090..196688977-chr1:196689893..196692748,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFHR2-1	chr1:196794607-196795156	NONHSAT008602
2	lnc-CFHR2-1	chr1:196794607-196794801	NONHSAT008600
3	lnc-CFHR2-1	chr1:196797200-196797297	NONHSAT008603
4	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008600
5	lnc-F13B-1	chr1:196834519-196834621	NONHSAT008604
6	lnc-CFHR5-1	chr1:196912957-196913068	NONHSAT008608
7	lnc-CFHR1-1	chr1:196762447-196762763	NONHSAT008599
8	lnc-CFHR5-1	chr1:196928011-196928345	NONHSAT008609
9	lnc-CFHR2-1	chr1:196794354-196794801	NONHSAT008603
10	lnc-CFHR2-1	chr1:196788952-196789032	NONHSAT008601
11	lnc-CFHR2-1	chr1:196790015-196790332	NONHSAT008601
12	lnc-CFHR5-1	chr1:196918585-196918779	NONHSAT008605
13	lnc-CFHR2-1	chr1:196797200-196797225	NONHSAT008600
14	lnc-CFHR5-1	chr1:196912947-196913068	NONHSAT008607
15	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008609
16	lnc-CFHR5-1	chr1:196928011-196928349	NONHSAT008608
17	lnc-F13B-1	chr1:196833477-196833736	NONHSAT008604
18	lnc-CFHR1-1	chr1:196758890-196759357	NONHSAT008599
19	lnc-CFHR2-1	chr1:196788893-196789032	NONHSAT008600
20	lnc-CFHR5-1	chr1:196918747-196918779	NONHSAT008606
21	lnc-CFHR5-1	chr1:196920030-196920158	NONHSAT008605
22	lnc-CFHR2-1	chr1:196788995-196789032	NONHSAT008602
23	lnc-CFHR5-1	chr1:196912988-196913068	NONHSAT008609
24	lnc-CFHR5-1	chr1:196918566-196918779	NONHSAT008607
25	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008603
26	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008605
27	lnc-CFHR5-1	chr1:196919982-196920157	NONHSAT008606
28	lnc-CFHR5-1	chr1:196919982-196920158	NONHSAT008608
29	lnc-CFHR2-1	chr1:196797280-196797376	NONHSAT008600
30	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008606
31	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008608
32	lnc-CFHR5-1	chr1:196928011-196928178	NONHSAT008605
33	lnc-CFHR5-1	chr1:196919982-196920069	NONHSAT008607
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
CFH	TF binding region
CFHR5	TF binding region
CFHR4	TF binding region
CFHR2	TF binding region
CFHR1	TF binding region
CFHR3	TF binding region
CFH	CpG island
CFHR5	CpG island
CFHR4	CpG island
CFHR2	CpG island
CFHR1	CpG island
CFHR3	CpG island
ENSG00000143278	chromatin interactions
ENSG00000116785	chromatin interactions

Extended variants
information (count: 7872 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:7872 , 50 per page) page: 1 2 3 4 5 6 7 ... 158

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574740126	chr1:196658307-196658308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535798565	chr1:196658308-196658309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557181611	chr1:196658355-196658356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56199504	chr1:196658378-196658379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371051436	chr1:196658379-196658380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561610900	chr1:196658382-196658383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528929275	chr1:196658392-196658393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563994730	chr1:196658395-196658396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572909275	chr1:196658396-196658397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376064265	chr1:196658407-196658408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539805897	chr1:196658421-196658422	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs482934	chr1:196658497-196658498	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs572308974	chr1:196658532-196658533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28397680	chr1:196658536-196658537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200203654	chr1:196658574-196658575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550898254	chr1:196658595-196658596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371192606	chr1:196658607-196658608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576059537	chr1:196658658-196658659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375951544	chr1:196658665-196658666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147549495	chr1:196658677-196658678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145650378	chr1:196658696-196658697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202000959	chr1:196658704-196658705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533322868	chr1:196658724-196658725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111782898	chr1:196658734-196658735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551969428	chr1:196658755-196658756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368636642	chr1:196658756-196658757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35695425	chr1:196658763-196658764	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371278506	chr1:196658794-196658795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542839114	chr1:196658819-196658820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191579994	chr1:196658899-196658900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183490571	chr1:196658904-196658905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12029785	chr1:196658905-196658906	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187159761	chr1:196658923-196658924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55954834	chr1:196658924-196658925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564745996	chr1:196658928-196658929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549355918	chr1:196658930-196658931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191663311	chr1:196658971-196658972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539222741	chr1:196658996-196658997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568951225	chr1:196659007-196659008	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557940634	chr1:196659030-196659031	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143547004	chr1:196659044-196659045	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540369234	chr1:196659072-196659073	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34815383	chr1:196659178-196659179	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368658558	chr1:196659179-196659180	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573331706	chr1:196659213-196659214	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201671665	chr1:196659231-196659232	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1061170	chr1:196659237-196659238	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
48	rs199705026	chr1:196659248-196659249	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs121913061	chr1:196659255-196659256	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369496377	chr1:196659285-196659286	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	22037309	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:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
5	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:196641400-196665800	Strong transcription	Liver	Liver
7	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
8	chr1:196646000-196678400	Weak transcription	K562	blood
9	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:196648200-196661200	Weak transcription	NHLF	lung
11	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
12	chr1:196648200-196666600	Weak transcription	NH-A	brain
13	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:196649600-196707200	Weak transcription	Osteobl	bone
16	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:196653600-196660600	Strong transcription	Dnd41	blood
18	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:196653800-196669600	Weak transcription	Lung	lung
20	chr1:196655000-196659800	Weak transcription	Left Ventricle	heart
21	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
22	chr1:196655200-196658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:196655200-196659200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:196655400-196658600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:196655600-196658600	Weak transcription	Ovary	ovary
27	chr1:196655600-196659200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:196656400-196664200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:196656800-196659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:196657600-196659400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:196658200-196659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:196658200-196659600	Strong transcription	HSMM	muscle
33	chr1:196658600-196660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:196658600-196660200	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:196658600-196660200	Strong transcription	Ovary	ovary
36	chr1:196659000-196660200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:196659200-196660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:196659200-196660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:196659200-196660200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:196659200-196660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:196659600-196670400	Weak transcription	HSMM	muscle
42	chr1:196659800-196660200	Enhancers	Placenta	Placenta
43	chr1:196660000-196662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:196660000-196692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:196660200-196662400	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:196660200-196662600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:196660200-196662600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:196660200-196662600	Weak transcription	Ovary	ovary
49	chr1:196660200-196669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:196660400-196667400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links