Variant report

Variant	rs17443206
Chromosome Location	chr12:40587014-40587015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:40586600-40587183	GM12878	blood:	n/a	n/a
2	MEF2C	chr12:40586610-40587295	GM12878	blood:	n/a	n/a
3	CHD1	chr12:40586562-40587281	GM12878	blood:	n/a	n/a
4	SP1	chr12:40586382-40587148	GM12878	blood:	n/a	n/a
5	RELA	chr12:40586393-40587378	GM12891	blood:	n/a	n/a
6	BCL11A	chr12:40586465-40587065	GM12878	blood:	n/a	n/a
7	MEF2A	chr12:40586530-40587160	GM12878	blood:	n/a	n/a
8	EP300	chr12:40586479-40587058	GM12878	blood:	n/a	n/a
9	POU2F2	chr12:40586461-40587281	GM12878	blood:	n/a	n/a
10	FOXM1	chr12:40586404-40587183	GM12878	blood:	n/a	n/a
11	IKZF1	chr12:40586419-40587024	GM12878	blood:	n/a	n/a
12	SPI1	chr12:40586462-40587125	GM12878	blood:	n/a	n/a
13	SPI1	chr12:40586450-40587129	GM12891	blood:	n/a	n/a
14	FOXM1	chr12:40586416-40587137	GM12878	blood:	n/a	n/a
15	ZNF384	chr12:40585946-40587130	GM12878	blood:	n/a	n/a
16	RELA	chr12:40586366-40587301	GM12878	blood:	n/a	n/a
17	WRNIP1	chr12:40586546-40587026	GM12878	blood:	n/a	n/a
18	MTA3	chr12:40586401-40587222	GM12878	blood:	n/a	n/a
19	RELA	chr12:40586253-40587360	GM18951	blood:	n/a	n/a
20	SP1	chr12:40586448-40587141	GM12878	blood:	n/a	n/a
21	PAX5	chr12:40586410-40587177	GM12878	blood:	n/a	chr12:40586893-40586912
22	EBF1	chr12:40586394-40587108	GM12878	blood:	n/a	n/a
23	PAX5	chr12:40586684-40587127	GM12892	blood:	n/a	chr12:40586893-40586912
24	TCF12	chr12:40586701-40587034	GM12878	blood:	n/a	n/a
25	RELA	chr12:40586374-40587289	GM19099	blood:	n/a	n/a
26	EP300	chr12:40586294-40587217	GM12878	blood:	n/a	n/a
27	POU2F2	chr12:40586522-40587117	GM12878	blood:	n/a	n/a
28	CUX1	chr12:40586703-40587080	GM12878	blood:	n/a	n/a
29	PAX5	chr12:40586551-40587049	GM12878	blood:	n/a	chr12:40586893-40586912
30	MEF2A	chr12:40586387-40587187	GM12878	blood:	n/a	n/a
31	RCOR1	chr12:40586329-40587132	GM12878	blood:	n/a	n/a
32	POU2F2	chr12:40586714-40587115	GM12891	blood:	n/a	n/a
33	EBF1	chr12:40586684-40587065	GM12878	blood:	n/a	n/a
34	ATF2	chr12:40586412-40587192	GM12878	blood:	n/a	n/a
35	RELA	chr12:40586442-40587486	GM19193	blood:	n/a	n/a
36	ATF2	chr12:40586416-40587052	GM12878	blood:	n/a	n/a
37	SMC3	chr12:40586884-40587141	GM12878	blood:	n/a	n/a
38	RUNX3	chr12:40586380-40587138	GM12878	blood:	n/a	n/a
39	PAX5	chr12:40586676-40587075	GM12891	blood:	n/a	chr12:40586893-40586912
40	PAX5	chr12:40586531-40587119	GM12878	blood:	n/a	chr12:40586893-40586912
41	NFIC	chr12:40586156-40587180	GM12878	blood:	n/a	n/a
42	MXI1	chr12:40586282-40587213	GM12878	blood:	n/a	n/a
43	SPI1	chr12:40586252-40587283	GM12878	blood:	n/a	n/a
44	EP300	chr12:40586482-40587248	GM12878	blood:	n/a	n/a
45	STAT3	chr12:40586543-40587070	GM12878	blood:	n/a	n/a
46	BCL11A	chr12:40586564-40587015	GM12878	blood:	n/a	n/a
47	CHD2	chr12:40586158-40587275	GM12878	blood:	n/a	n/a
48	ELK1	chr12:40586548-40587139	GM12878	blood:	n/a	n/a
49	BHLHE40	chr12:40586473-40587331	GM12878	blood:	n/a	n/a
50	TBL1XR1	chr12:40586180-40587326	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
LRRK2	TF binding region

rs_ID	r²[population]
rs10506144	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10506147	0.86[EUR][1000 genomes]
rs10506154	1.00[CEU][hapmap]
rs11174697	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11175186	0.93[EUR][1000 genomes]
rs11175593	0.86[EUR][1000 genomes]
rs11564107	0.86[EUR][1000 genomes]
rs11564128	1.00[JPT][hapmap]
rs11564152	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11564153	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11564185	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11564187	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11564199	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11564204	1.00[JPT][hapmap]
rs11564209	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11564210	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11564212	0.86[EUR][1000 genomes]
rs11564216	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11564266	1.00[CEU][hapmap]
rs11564271	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12368785	1.00[JPT][hapmap]
rs12368891	1.00[JPT][hapmap]
rs12422544	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12422796	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12424040	0.93[EUR][1000 genomes]
rs12426378	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12426639	1.00[CEU][hapmap]
rs12427245	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1365768	1.00[CEU][hapmap]
rs1365769	1.00[CEU][hapmap]
rs1388585	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1388597	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1463717	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17442206	1.00[JPT][hapmap]
rs17442297	1.00[JPT][hapmap]
rs17442490	1.00[CEU][hapmap]
rs17442742	1.00[JPT][hapmap]
rs17442924	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17442980	1.00[JPT][hapmap]
rs17443078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17443178	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17443185	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17443366	1.00[JPT][hapmap]
rs17443380	1.00[JPT][hapmap]
rs17443387	1.00[JPT][hapmap]
rs17443504	1.00[JPT][hapmap]
rs17443600	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17443656	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17443882	1.00[JPT][hapmap]
rs17443909	0.86[EUR][1000 genomes]
rs17443916	1.00[JPT][hapmap]
rs17443951	1.00[JPT][hapmap]
rs17444021	1.00[JPT][hapmap]
rs17444028	0.81[EUR][1000 genomes]
rs17444033	1.00[JPT][hapmap]
rs17444054	0.81[EUR][1000 genomes]
rs17444103	1.00[CEU][hapmap]
rs17444299	1.00[JPT][hapmap]
rs17458093	1.00[JPT][hapmap]
rs17458121	1.00[JPT][hapmap]
rs17458202	1.00[JPT][hapmap]
rs17458396	1.00[JPT][hapmap]
rs17458417	1.00[JPT][hapmap]
rs17458487	1.00[JPT][hapmap]
rs17458528	1.00[JPT][hapmap]
rs17458549	0.93[EUR][1000 genomes]
rs17458808	0.93[EUR][1000 genomes]
rs17458836	1.00[JPT][hapmap]
rs17461337	1.00[JPT][hapmap]
rs17461575	0.86[EUR][1000 genomes]
rs17461664	0.81[EUR][1000 genomes]
rs17465610	0.86[EUR][1000 genomes]
rs17465737	1.00[JPT][hapmap]
rs17465751	1.00[JPT][hapmap]
rs17465807	1.00[JPT][hapmap]
rs17465877	1.00[JPT][hapmap]
rs17465946	0.86[EUR][1000 genomes]
rs17466002	1.00[JPT][hapmap]
rs17466016	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17466143	1.00[JPT][hapmap]
rs17466206	1.00[JPT][hapmap]
rs17466213	1.00[JPT][hapmap]
rs17466241	1.00[JPT][hapmap]
rs17466458	1.00[JPT][hapmap]
rs17466514	1.00[JPT][hapmap]
rs17466535	1.00[JPT][hapmap]
rs17466584	1.00[JPT][hapmap]
rs17466612	1.00[JPT][hapmap]
rs17466626	1.00[CEU][hapmap]
rs17466907	1.00[CEU][hapmap]
rs17466969	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17483857	1.00[JPT][hapmap]
rs17483996	1.00[JPT][hapmap]
rs17484003	0.93[EUR][1000 genomes]
rs17484176	1.00[JPT][hapmap]
rs17484342	0.81[EUR][1000 genomes]
rs17484493	1.00[CEU][hapmap]
rs17489170	1.00[JPT][hapmap]
rs17489218	1.00[JPT][hapmap]
rs17489225	1.00[JPT][hapmap]
rs17489246	1.00[JPT][hapmap]
rs17489253	1.00[JPT][hapmap]
rs17489267	1.00[JPT][hapmap]
rs17489365	1.00[JPT][hapmap]
rs17489410	1.00[JPT][hapmap]
rs17489417	1.00[JPT][hapmap]
rs17489466	1.00[JPT][hapmap]
rs17489501	1.00[JPT][hapmap]
rs17489583	1.00[JPT][hapmap]
rs17489590	1.00[JPT][hapmap]
rs17489597	1.00[JPT][hapmap]
rs17489638	1.00[JPT][hapmap]
rs17489869	1.00[JPT][hapmap]
rs17490006	1.00[JPT][hapmap]
rs17490334	1.00[JPT][hapmap]
rs17490341	1.00[JPT][hapmap]
rs17490599	1.00[JPT][hapmap]
rs17490769	1.00[JPT][hapmap]
rs17490796	1.00[JPT][hapmap]
rs17490810	1.00[JPT][hapmap]
rs17491047	1.00[JPT][hapmap]
rs17491061	1.00[JPT][hapmap]
rs17491068	1.00[JPT][hapmap]
rs17491180	1.00[JPT][hapmap]
rs17491340	1.00[JPT][hapmap]
rs17491445	1.00[JPT][hapmap]
rs17491515	1.00[JPT][hapmap]
rs17491529	1.00[JPT][hapmap]
rs17491638	1.00[JPT][hapmap]
rs17491807	1.00[JPT][hapmap]
rs17491835	1.00[JPT][hapmap]
rs17491863	1.00[JPT][hapmap]
rs17518057	1.00[JPT][hapmap]
rs17518071	1.00[JPT][hapmap]
rs17518141	1.00[JPT][hapmap]
rs17518148	1.00[JPT][hapmap]
rs17518155	1.00[JPT][hapmap]
rs17518204	1.00[JPT][hapmap]
rs17518232	1.00[JPT][hapmap]
rs17518343	1.00[JPT][hapmap]
rs17518413	1.00[JPT][hapmap]
rs17518420	1.00[JPT][hapmap]
rs17518532	1.00[JPT][hapmap]
rs17518910	1.00[JPT][hapmap]
rs17519531	1.00[JPT][hapmap]
rs17519566	1.00[JPT][hapmap]
rs17519580	1.00[JPT][hapmap]
rs17519615	1.00[JPT][hapmap]
rs17519671	1.00[JPT][hapmap]
rs17519811	1.00[JPT][hapmap]
rs17519825	1.00[JPT][hapmap]
rs17519832	1.00[JPT][hapmap]
rs17519985	1.00[JPT][hapmap]
rs17520020	1.00[JPT][hapmap]
rs17520278	1.00[JPT][hapmap]
rs17520292	1.00[JPT][hapmap]
rs17520515	1.00[JPT][hapmap]
rs17520620	1.00[JPT][hapmap]
rs2638223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708460	1.00[EUR][1000 genomes]
rs28365169	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs28365173	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs28365178	1.00[JPT][hapmap]
rs28365191	1.00[JPT][hapmap]
rs28365203	1.00[JPT][hapmap]
rs28365211	1.00[JPT][hapmap]
rs28365221	1.00[JPT][hapmap]
rs28365226	1.00[JPT][hapmap]
rs28365229	1.00[CEU][hapmap]
rs28365233	1.00[JPT][hapmap]
rs28365682	1.00[JPT][hapmap]
rs28365689	0.93[EUR][1000 genomes]
rs28365690	1.00[JPT][hapmap]
rs28370643	1.00[JPT][hapmap]
rs28370649	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs28370650	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs28370652	1.00[JPT][hapmap]
rs28370655	1.00[JPT][hapmap]
rs28370658	1.00[JPT][hapmap]
rs28370664	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs28370665	1.00[JPT][hapmap]
rs28370670	1.00[JPT][hapmap]
rs28370672	1.00[JPT][hapmap]
rs28370673	1.00[JPT][hapmap]
rs28370682	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs28370750	1.00[JPT][hapmap]
rs28370751	1.00[JPT][hapmap]
rs28370755	1.00[JPT][hapmap]
rs28370764	1.00[JPT][hapmap]
rs28370765	1.00[JPT][hapmap]
rs28370767	1.00[JPT][hapmap]
rs28370768	1.00[JPT][hapmap]
rs28370771	1.00[JPT][hapmap]
rs28370772	1.00[JPT][hapmap]
rs28370776	1.00[JPT][hapmap]
rs28370779	1.00[JPT][hapmap]
rs28370787	1.00[JPT][hapmap]
rs28370793	1.00[JPT][hapmap]
rs28370796	1.00[JPT][hapmap]
rs28370818	1.00[JPT][hapmap]
rs28370823	1.00[JPT][hapmap]
rs28370826	1.00[JPT][hapmap]
rs28370830	0.86[EUR][1000 genomes]
rs36212067	0.81[EUR][1000 genomes]
rs36220738	0.81[EUR][1000 genomes]
rs3789329	1.00[CEU][hapmap]
rs4628750	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4767965	0.86[EUR][1000 genomes]
rs4768213	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4768226	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4768228	0.81[EUR][1000 genomes]
rs72547977	0.86[EUR][1000 genomes]
rs729215	0.93[EUR][1000 genomes]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40585600-40587200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:40585800-40587200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:40585800-40587400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:40586000-40587400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:40586000-40587600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:40586000-40591000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:40586200-40587200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:40586200-40591600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:40586400-40587200	Enhancers	HUVEC	blood vessel
10	chr12:40586600-40587200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:40586800-40587200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:40586800-40587200	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr12:40586800-40588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:40587000-40587400	Flanking Active TSS	GM12878-XiMat	blood
15	chr12:40587000-40587800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:40587000-40588000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:40587000-40588200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links