Variant report

Variant	rs17518910
Chromosome Location	chr12:40546623-40546624
allele	A/G
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	CTCF	chr12:40546552-40546989	A549	lung:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
2	FOS	chr12:40546611-40546932	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr12:40546484-40547110	MCF-7	breast:	n/a	chr12:40546776-40546795
4	RAD21	chr12:40546572-40546935	H1-hESC	embryonic stem cell:	n/a	chr12:40546776-40546795
5	RAD21	chr12:40546595-40546976	IMR90	lung:	n/a	chr12:40546776-40546795
6	CTCF	chr12:40546619-40546868	SK-N-SH_RA	brain:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
7	CTCF	chr12:40546572-40546970	IMR90	lung:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
8	RAD21	chr12:40546577-40547042	ECC-1	luminal epithelium:	n/a	chr12:40546776-40546795
9	CTCF	chr12:40546622-40546887	K562	blood:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
10	RFX5	chr12:40546600-40546932	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr12:40546212-40547681	A549	lung:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
12	RAD21	chr12:40546539-40546968	Hela-S3	cervix:	n/a	chr12:40546776-40546795
13	CTCF	chr12:40546613-40546851	T-47D	breast:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
14	CTCF	chr12:40546532-40546974	GM12878	blood:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
15	RAD21	chr12:40546500-40546999	A549	lung:	n/a	chr12:40546776-40546795
16	CTCF	chr12:40546621-40546982	K562	blood:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
17	RAD21	chr12:40546565-40546916	HepG2	liver:	n/a	chr12:40546776-40546795
18	CTCF	chr12:40546404-40547176	SK-N-SH	brain:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
19	RAD21	chr12:40546576-40547129	GM12878	blood:	n/a	chr12:40546776-40546795
20	SMC3	chr12:40546611-40546930	K562	blood:	n/a	chr12:40546777-40546791
21	CTCF	chr12:40546580-40546730	GM12867	blood:	n/a	n/a
22	ZNF143	chr12:40546593-40546944	GM12878	blood:	n/a	n/a
23	CTCF	chr12:40546585-40546843	H1-hESC	embryonic stem cell:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
24	CTCF	chr12:40546581-40546881	ECC-1	luminal epithelium:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
25	RAD21	chr12:40546481-40547050	A549	lung:	n/a	chr12:40546776-40546795
26	RAD21	chr12:40546527-40547005	ECC-1	luminal epithelium:	n/a	chr12:40546776-40546795
27	JUND	chr12:40546578-40546894	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:40546560-40546954	ECC-1	luminal epithelium:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
29	FOXM1	chr12:40546529-40546974	GM12878	blood:	n/a	n/a
30	CTCF	chr12:40546507-40547046	MCF-7	breast:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
31	CTCF	chr12:40546602-40546933	A549	lung:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
32	RAD21	chr12:40546577-40546954	GM12878	blood:	n/a	chr12:40546776-40546795
33	SMC3	chr12:40546582-40547025	GM12878	blood:	n/a	chr12:40546777-40546791
34	POU2F2	chr12:40546493-40546862	GM12878	blood:	n/a	chr12:40546747-40546760
35	RAD21	chr12:40546599-40546946	A549	lung:	n/a	chr12:40546776-40546795
36	SMC3	chr12:40546557-40547153	SK-N-SH	brain:	n/a	chr12:40546777-40546791
37	CTCF	chr12:40546580-40546730	A549	lung:	n/a	n/a
38	RAD21	chr12:40546600-40546836	HepG2	liver:	n/a	chr12:40546776-40546795
39	RAD21	chr12:40546612-40546946	HepG2	liver:	n/a	chr12:40546776-40546795
40	CTCF	chr12:40546619-40547042	Spleen_OC	spleen:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
41	POU2F2	chr12:40546584-40546878	GM12878	blood:	n/a	chr12:40546747-40546760
42	CTCF	chr12:40546550-40546956	HepG2	liver:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
43	SMC3	chr12:40546565-40547043	Hela-S3	cervix:	n/a	chr12:40546777-40546791
44	ZNF143	chr12:40546611-40546919	K562	blood:	n/a	n/a
45	POU2F2	chr12:40546595-40546850	GM12891	blood:	n/a	chr12:40546747-40546760
46	ZNF143	chr12:40546620-40546941	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr12:40546585-40546915	H1-hESC	embryonic stem cell:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793
48	RAD21	chr12:40546616-40547049	HCT-116	colon:	n/a	chr12:40546776-40546795
49	RAD21	chr12:40546575-40546958	H1-hESC	embryonic stem cell:	n/a	chr12:40546776-40546795
50	CTCF	chr12:40546499-40546971	T-47D	breast:	n/a	chr12:40546776-40546792 chr12:40546777-40546798 chr12:40546778-40546791 chr12:40546775-40546793

No.	Distal block	Cell Line	Cell type
1	chr12:40536767..40538493-chr12:40545018..40546756,2	K562	blood:
2	12:40545640-40549031..12:40691796-40694737	GM12878	blood:
3	chr12:40546299..40547451-chr12:40706483..40707430,5	MCF-7	breast:
4	chr12:40546325..40546967-chr12:40662693..40663558,3	MCF-7	breast:
5	chr12:40158520..40159448-chr12:40546284..40547792,5	MCF-7	breast:
6	chr12:40546236..40547437-chr12:40706403..40707441,12	MCF-7	breast:
7	12:40545640-40549031..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000223914	TF binding region
ENSG00000188906	Chromatin interaction

rs_ID	r²[population]
rs11564128	1.00[JPT][hapmap]
rs11564204	1.00[JPT][hapmap]
rs12368785	1.00[JPT][hapmap]
rs12368891	1.00[JPT][hapmap]
rs17442206	1.00[JPT][hapmap]
rs17442297	1.00[JPT][hapmap]
rs17442742	1.00[JPT][hapmap]
rs17442980	1.00[JPT][hapmap]
rs17443178	1.00[JPT][hapmap]
rs17443185	1.00[JPT][hapmap]
rs17443206	1.00[JPT][hapmap]
rs17443366	1.00[JPT][hapmap]
rs17443380	1.00[JPT][hapmap]
rs17443387	1.00[JPT][hapmap]
rs17443504	1.00[JPT][hapmap]
rs17443882	1.00[JPT][hapmap]
rs17443916	1.00[JPT][hapmap]
rs17443951	1.00[JPT][hapmap]
rs17444021	1.00[JPT][hapmap]
rs17444033	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]
rs17458836	1.00[JPT][hapmap]
rs17461337	1.00[JPT][hapmap]
rs17465737	1.00[JPT][hapmap]
rs17465751	1.00[JPT][hapmap]
rs17465807	1.00[JPT][hapmap]
rs17465877	1.00[JPT][hapmap]
rs17466002	1.00[JPT][hapmap]
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]
rs17483857	1.00[JPT][hapmap]
rs17483996	1.00[JPT][hapmap]
rs17484176	1.00[JPT][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]
rs17489344	1.00[AMR][1000 genomes]
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]
rs17489764	1.00[AMR][1000 genomes]
rs17489869	1.00[JPT][hapmap]
rs17490006	1.00[JPT][hapmap]
rs17490062	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17490334	1.00[JPT][hapmap]
rs17490341	1.00[JPT][hapmap]
rs17490397	1.00[AMR][1000 genomes]
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]
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];1.00[AMR][1000 genomes]
rs17519034	1.00[AMR][1000 genomes]
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]
rs2252434	1.00[AMR][1000 genomes]
rs2256286	1.00[AMR][1000 genomes]
rs2256408	1.00[AMR][1000 genomes]
rs2638273	1.00[AMR][1000 genomes]
rs2708429	1.00[AMR][1000 genomes]
rs2708433	1.00[AMR][1000 genomes]
rs2708439	1.00[AMR][1000 genomes]
rs2708440	1.00[AMR][1000 genomes]
rs2723256	1.00[AMR][1000 genomes]
rs2723266	1.00[AMR][1000 genomes]
rs2723267	1.00[AMR][1000 genomes]
rs2723273	1.00[AMR][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]
rs28365233	1.00[JPT][hapmap]
rs28365682	1.00[JPT][hapmap]
rs28365690	1.00[JPT][hapmap]
rs28370605	1.00[JPT][hapmap]
rs28370608	1.00[JPT][hapmap]
rs28370616	1.00[JPT][hapmap]
rs28370643	1.00[JPT][hapmap]
rs28370649	1.00[JPT][hapmap]
rs28370652	1.00[JPT][hapmap]
rs28370655	1.00[JPT][hapmap]
rs28370658	1.00[JPT][hapmap]
rs28370665	1.00[JPT][hapmap]
rs28370670	1.00[JPT][hapmap]
rs28370672	1.00[JPT][hapmap]
rs28370673	1.00[JPT][hapmap]
rs28370682	1.00[JPT][hapmap]
rs28370690	1.00[JPT][hapmap]
rs28370692	1.00[JPT][hapmap]
rs28370694	1.00[AMR][1000 genomes]
rs28370696	1.00[JPT][hapmap]
rs28370700	1.00[JPT][hapmap]
rs28370705	1.00[AMR][1000 genomes]
rs28370706	1.00[AMR][1000 genomes]
rs28370707	1.00[JPT][hapmap]
rs28370714	1.00[AMR][1000 genomes]
rs28370718	1.00[JPT][hapmap]
rs28370720	1.00[AMR][1000 genomes]
rs28370724	1.00[AMR][1000 genomes]
rs28370731	1.00[JPT][hapmap]
rs28370737	1.00[JPT][hapmap]
rs28370743	1.00[AMR][1000 genomes]
rs28370744	1.00[JPT][hapmap]
rs28370750	1.00[JPT][hapmap]
rs28370751	1.00[JPT][hapmap]
rs28370755	1.00[JPT][hapmap]
rs28370761	1.00[AMR][1000 genomes]
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]
rs28370790	1.00[AMR][1000 genomes]
rs28370793	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs28370796	1.00[JPT][hapmap]
rs28370800	1.00[JPT][hapmap]
rs28370806	1.00[JPT][hapmap]
rs28370808	1.00[JPT][hapmap]
rs28370813	1.00[JPT][hapmap]
rs28370818	1.00[JPT][hapmap]
rs28370823	1.00[JPT][hapmap]
rs28370826	1.00[JPT][hapmap]
rs28740214	1.00[AMR][1000 genomes]
rs7978216	1.00[AMR][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	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40543800-40547200	Weak transcription	HMEC	breast
2	chr12:40544000-40547400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:40544200-40547000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40544200-40547200	Weak transcription	NHEK	skin
5	chr12:40546200-40547400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:40546600-40546800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:40546600-40547200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:40546600-40547800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:40546600-40547800	Enhancers	A549	lung
10	chr12:40546600-40548400	Enhancers	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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