Variant report

Variant	rs72618627
Chromosome Location	chr2:46665512-46665513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46606421..46608528-chr2:46662722..46665704,2	K562	blood:

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11125078	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12470939	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12471274	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12472120	0.85[ASN][1000 genomes]
rs12473673	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12474961	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12474965	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475015	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12612916	0.85[EUR][1000 genomes]
rs12613088	0.85[EUR][1000 genomes]
rs12617193	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619386	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12619696	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619754	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12621486	0.81[EUR][1000 genomes]
rs12622818	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1530623	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1551123	0.83[EUR][1000 genomes]
rs1562454	0.83[EUR][1000 genomes]
rs17035200	0.80[EUR][1000 genomes]
rs1868090	0.82[ASN][1000 genomes]
rs1868095	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1868845	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2053766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121699	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166746	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276556	0.91[EUR][1000 genomes]
rs2881326	0.97[EUR][1000 genomes]
rs34405528	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35589072	0.80[EUR][1000 genomes]
rs4145835	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952825	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4952826	0.91[EUR][1000 genomes]
rs4952827	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4953364	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4953369	0.82[ASN][1000 genomes]
rs4953370	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4953376	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4953395	0.80[EUR][1000 genomes]
rs55871716	0.80[EUR][1000 genomes]
rs56894248	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57720200	0.85[ASN][1000 genomes]
rs57996107	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58402726	0.88[EUR][1000 genomes]
rs58725320	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59013670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59761895	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59856996	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60685999	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61193538	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61560601	0.85[ASN][1000 genomes]
rs66533451	0.80[EUR][1000 genomes]
rs6714240	0.88[EUR][1000 genomes]
rs6723195	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67435514	0.83[ASN][1000 genomes]
rs67739992	0.80[EUR][1000 genomes]
rs67960524	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68030749	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618620	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72618621	0.97[EUR][1000 genomes]
rs72618622	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72618623	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618624	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72618625	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72618626	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618628	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618629	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618631	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618632	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72873772	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7573688	0.88[EUR][1000 genomes]
rs7574467	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7595513	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1001902	chr2:46651624-46675665	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997637	chr2:46651624-46676628	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1003646	chr2:46651624-46677186	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv581745	chr2:46660445-46693963	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr2:46657200-46672200	Enhancers	HepG2	liver
2	chr2:46659200-46665600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:46660400-46665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:46660400-46665800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:46660400-46666200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:46660600-46665800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:46660600-46665800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:46660600-46665800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:46660800-46669600	Weak transcription	Pancreas	Pancrea
10	chr2:46662200-46666400	Weak transcription	Fetal Thymus	thymus
11	chr2:46662200-46678400	Weak transcription	Placenta	Placenta
12	chr2:46662600-46665600	Weak transcription	Primary T cells from cord blood	blood
13	chr2:46663200-46671400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:46663400-46666200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:46663600-46666200	Weak transcription	Osteobl	bone
16	chr2:46663600-46666600	Weak transcription	HMEC	breast
17	chr2:46663800-46665600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:46663800-46666200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:46664000-46665800	Weak transcription	NHLF	lung
20	chr2:46665200-46668400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:46665400-46666600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:46665400-46668200	Enhancers	K562	blood
23	chr2:46665400-46668400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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