Variant report

Variant	rs61923810
Chromosome Location	chr12:45607118-45607119
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:45606980-45607130	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr12:45606980-45607130	AG04449	skin:	n/a	n/a
3	CTCF	chr12:45607020-45607170	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr12:45607020-45607170	HMF	breast:	n/a	n/a
5	CTCF	chr12:45606980-45607130	HCM	heart:	n/a	n/a
6	CTCF	chr12:45607000-45607150	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr12:45607000-45607150	GM12873	blood:	n/a	n/a
8	CTCF	chr12:45607000-45607150	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr12:45607000-45607150	HFF	foreskin:	n/a	n/a
10	CTCF	chr12:45607000-45607150	AG04449	skin:	n/a	n/a
11	CTCF	chr12:45607000-45607150	RPTEC	kidney:	n/a	n/a
12	CTCF	chr12:45607020-45607170	AoAF	blood vessel:	n/a	n/a
13	CTCF	chr12:45607000-45607150	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr12:45607000-45607150	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr12:45607000-45607150	NHEK	skin:	n/a	n/a
16	CTCF	chr12:45606980-45607130	AG10803	skin:	n/a	n/a
17	CTCF	chr12:45607000-45607150	HVMF	connective:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45600353..45602276-chr12:45606984..45608577,2	K562	blood:
2	chr12:45577662..45579283-chr12:45606398..45608791,2	K562	blood:
3	chr12:45606663..45609233-chr12:45722642..45725122,2	K562	blood:

No data

Variant related genes	Relation type
ANO6	TF binding region

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

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10459294	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459295	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10492284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785556	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10880757	0.85[ASN][1000 genomes]
rs10880758	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10880760	0.91[EUR][1000 genomes]
rs10880761	0.89[EUR][1000 genomes]
rs10880762	0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.91[EUR][1000 genomes]
rs10880765	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10880766	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10880768	0.80[AMR][1000 genomes]
rs11182898	0.92[ASN][1000 genomes]
rs11182899	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11182903	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182904	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182905	0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182913	0.91[EUR][1000 genomes]
rs11182916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182918	0.91[EUR][1000 genomes]
rs11182919	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182921	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182927	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182935	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182936	0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182949	0.89[EUR][1000 genomes]
rs11182953	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182954	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182955	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182957	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11182961	0.80[AMR][1000 genomes]
rs11182965	0.80[AMR][1000 genomes]
rs11182966	0.80[AMR][1000 genomes]
rs11182969	0.80[AMR][1000 genomes]
rs11182970	0.80[AMR][1000 genomes]
rs11182973	0.80[AMR][1000 genomes]
rs11182974	0.80[AMR][1000 genomes]
rs11182981	0.80[AMR][1000 genomes]
rs11561532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11610233	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611509	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11612233	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614082	0.80[AMR][1000 genomes]
rs11614089	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11615850	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12226944	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12228399	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12228733	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230322	0.91[EUR][1000 genomes]
rs12231753	0.81[EUR][1000 genomes]
rs12299174	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320168	0.91[EUR][1000 genomes]
rs12320437	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12322087	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814332	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12815115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815334	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12815723	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12818421	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12822746	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12828052	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17095551	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[EUR][1000 genomes]
rs2408184	0.91[EUR][1000 genomes]
rs2408185	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34024171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34759896	0.80[AMR][1000 genomes]
rs35032811	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35054776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35400022	0.80[AMR][1000 genomes]
rs35588430	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759082	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782131	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57560057	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57797434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923825	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7138983	0.87[EUR][1000 genomes]
rs7954282	0.91[ASN][1000 genomes]
rs7963038	0.91[EUR][1000 genomes]
rs7963057	0.91[EUR][1000 genomes]
rs9739519	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45595200-45608600	Weak transcription	Fetal Thymus	thymus
2	chr12:45595200-45608600	Weak transcription	Small Intestine	intestine
3	chr12:45595400-45608600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:45600000-45608600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:45600200-45607800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:45600200-45607800	Weak transcription	GM12878-XiMat	blood
7	chr12:45600200-45608000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:45600200-45608000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:45600200-45608600	Weak transcription	Thymus	Thymus
10	chr12:45600400-45608000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:45600400-45608200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:45600400-45608200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:45600400-45608400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:45603200-45608000	Weak transcription	NHEK	skin
15	chr12:45603200-45608400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:45603200-45608600	Weak transcription	Ovary	ovary
17	chr12:45603400-45608000	Weak transcription	A549	lung
18	chr12:45603400-45608400	Weak transcription	HepG2	liver
19	chr12:45603400-45608600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:45603400-45608600	Weak transcription	Liver	Liver
21	chr12:45603400-45608600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:45604000-45608000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:45607000-45607200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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