Variant report

Variant	rs2878281
Chromosome Location	chr12:64667726-64667727
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:214)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:214 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:64667620-64667770	Caco-2	colon:	n/a	n/a
2	RAD21	chr12:64667562-64667867	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr12:64667535-64667826	HepG2	liver:	n/a	n/a
4	RAD21	chr12:64667442-64667875	HepG2	liver:	n/a	n/a
5	CTCF	chr12:64667660-64667810	GM12872	blood:	n/a	n/a
6	CTCF	chr12:64667500-64667770	WI-38	lung:	n/a	n/a
7	CTCF	chr12:64667640-64667790	HCT-116	colon:	n/a	n/a
8	RUNX3	chr12:64667533-64667948	GM12878	blood:	n/a	n/a
9	CTCF	chr12:64667620-64667770	AG09319	gingival:	n/a	n/a
10	CTCF	chr12:64667660-64667810	RPTEC	kidney:	n/a	n/a
11	SPI1	chr12:64667536-64667826	GM12878	blood:	n/a	chr12:64667806-64667813
12	CTCF	chr12:64667491-64667908	HepG2	liver:	n/a	n/a
13	CTCF	chr12:64667601-64667799	GM13977	blood:	n/a	n/a
14	CTCF	chr12:64667620-64667770	RPTEC	kidney:	n/a	n/a
15	CTCF	chr12:64667600-64667750	BJ	skin:	n/a	n/a
16	CTCF	chr12:64667333-64668064	A549	lung:	n/a	n/a
17	CTCF	chr12:64667561-64667793	T-47D	breast:	n/a	n/a
18	E2F6	chr12:64667531-64668189	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr12:64667568-64667886	K562	blood:	n/a	n/a
20	CTCF	chr12:64667602-64667789	HepG2	liver:	n/a	n/a
21	CTCF	chr12:64667640-64667790	GM12872	blood:	n/a	n/a
22	RAD21	chr12:64667371-64667952	HCT-116	colon:	n/a	n/a
23	CTCF	chr12:64667660-64667810	HCM	heart:	n/a	n/a
24	POLR2A	chr12:64667714-64667873	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:64667477-64667837	K562	blood:	n/a	n/a
26	CTCF	chr12:64667580-64667730	Caco-2	colon:	n/a	n/a
27	CTCF	chr12:64667640-64667790	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr12:64667470-64667853	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:64667556-64667848	K562	blood:	n/a	n/a
30	CTCF	chr12:64667620-64667770	SAEC	small airway:	n/a	n/a
31	YY1	chr12:64667491-64667882	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr12:64667640-64667790	AG09319	gingival:	n/a	n/a
33	CTCF	chr12:64667580-64667730	NHEK	skin:	n/a	n/a
34	CTCF	chr12:64667600-64667750	HPAF	blood vessel:	n/a	n/a
35	JUND	chr12:64667567-64667826	K562	blood:	n/a	n/a
36	CTCF	chr12:64667600-64667750	NB4	blood:	n/a	n/a
37	CTCF	chr12:64667620-64667770	AG10803	skin:	n/a	n/a
38	CTCF	chr12:64667620-64667770	HepG2	liver:	n/a	n/a
39	CTCF	chr12:64667559-64667835	LNCaP	prostate:	n/a	n/a
40	CTCF	chr12:64667620-64667770	BE2_C	brain:	n/a	n/a
41	CTCF	chr12:64667580-64667730	GM12872	blood:	n/a	n/a
42	YY1	chr12:64667642-64667778	K562	blood:	n/a	n/a
43	RAD21	chr12:64667536-64667845	IMR90	lung:	n/a	n/a
44	CTCF	chr12:64667600-64667750	HVMF	connective:	n/a	n/a
45	CTCF	chr12:64667620-64667770	HMEC	breast:	n/a	n/a
46	RAD21	chr12:64667547-64667816	GM12878	blood:	n/a	n/a
47	CTCF	chr12:64667620-64667770	GM12871	blood:	n/a	n/a
48	CTCF	chr12:64667589-64667748	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr12:64667640-64667790	HMF	breast:	n/a	n/a
50	CTCF	chr12:64667700-64667850	HVMF	connective:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64236984..64239290-chr12:64667145..64669112,2	MCF-7	breast:
2	chr12:64667667..64670123-chr12:64797351..64799283,2	K562	blood:
3	chr12:64232868..64233765-chr12:64667261..64668056,2	MCF-7	breast:
4	chr12:64667209..64668158-chr12:64785710..64786773,8	MCF-7	breast:
5	chr12:64666267..64669133-chr12:64797139..64800430,4	MCF-7	breast:
6	chr12:64667204..64668246-chr12:64785531..64786298,5	MCF-7	breast:
7	chr12:64667186..64668381-chr12:64766771..64767890,3	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf56	TF binding region
ENSG00000184575	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1002392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735919	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10748005	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748006	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784389	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784390	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10784392	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784394	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784395	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784396	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784397	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784400	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10878128	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878129	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878134	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878135	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878140	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878141	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878142	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11175302	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175307	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175308	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1162974	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1162976	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1162977	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1178702	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1178703	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1185525	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12296514	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12297747	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298172	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12300514	0.82[ASN][1000 genomes]
rs12300747	0.85[ASN][1000 genomes]
rs12303938	0.85[ASN][1000 genomes]
rs12309193	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12317146	0.83[ASN][1000 genomes]
rs12321083	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12581905	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1347576	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1436362	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436363	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1545098	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17100184	0.82[EUR][1000 genomes]
rs17223130	0.85[ASN][1000 genomes]
rs17223151	0.83[ASN][1000 genomes]
rs1808129	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865790	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1865791	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865797	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1865798	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1865800	0.83[AFR][1000 genomes]
rs1898220	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1978794	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2010889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082950	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2164503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2334885	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2917499	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2917501	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4076831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4491342	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4628780	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4631982	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763009	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763010	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763143	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763144	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763145	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763147	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763148	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763150	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5015811	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5015814	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5015816	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5015817	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5015818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160145	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59282249	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61034000	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61931479	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61933465	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6581534	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453883	0.81[ASN][1000 genomes]
rs7303085	0.82[EUR][1000 genomes]
rs7303208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7306905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73116187	0.85[ASN][1000 genomes]
rs7313249	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7313429	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7316630	0.91[ASN][1000 genomes]
rs7954838	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7955726	0.92[ASN][1000 genomes]
rs7956726	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962466	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7964830	0.92[ASN][1000 genomes]
rs7969382	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971787	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7973109	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975823	0.81[ASN][1000 genomes]
rs7976659	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9804707	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64651000-64667800	Weak transcription	Placenta	Placenta
2	chr12:64663400-64667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:64667200-64668000	Enhancers	Brain Cingulate Gyrus	brain
4	chr12:64667400-64668000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:64667400-64668000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:64667400-64668000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:64667400-64668000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:64667400-64668000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:64667400-64668000	Enhancers	A549	lung
10	chr12:64667600-64668000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:64667600-64668000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:64667600-64668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:64667600-64668000	Enhancers	Brain Hippocampus Middle	brain
14	chr12:64667600-64694400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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