Variant report

Variant	rs72873728
Chromosome Location	chr2:46667450-46667451
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46611170..46613547-chr2:46667403..46669178,2	K562	blood:
2	chr2:46661749..46663696-chr2:46665776..46668520,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187600	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17035171	1.00[EUR][1000 genomes]
rs57689608	1.00[EUR][1000 genomes]
rs57855710	1.00[EUR][1000 genomes]
rs58237950	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58816264	0.90[AMR][1000 genomes]
rs59180948	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59376417	1.00[EUR][1000 genomes]
rs60076970	0.90[AMR][1000 genomes]
rs60271025	1.00[EUR][1000 genomes]
rs61029748	0.90[AMR][1000 genomes]
rs61093993	1.00[EUR][1000 genomes]
rs61307189	0.90[AMR][1000 genomes]
rs61436327	1.00[EUR][1000 genomes]
rs61498129	1.00[EUR][1000 genomes]
rs61693092	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61995899	1.00[EUR][1000 genomes]
rs6741442	1.00[EUR][1000 genomes]
rs6741678	1.00[EUR][1000 genomes]
rs72871953	0.90[AMR][1000 genomes]
rs72871989	0.90[AMR][1000 genomes]
rs72873709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873778	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873781	1.00[EUR][1000 genomes]
rs72873783	1.00[EUR][1000 genomes]
rs72873787	1.00[EUR][1000 genomes]
rs72873789	1.00[EUR][1000 genomes]
rs72873791	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875604	1.00[EUR][1000 genomes]
rs72875615	1.00[EUR][1000 genomes]
rs72875623	1.00[EUR][1000 genomes]
rs7557688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7568949	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7572109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591555	1.00[EUR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46657200-46672200	Enhancers	HepG2	liver
2	chr2:46660800-46669600	Weak transcription	Pancreas	Pancrea
3	chr2:46662200-46678400	Weak transcription	Placenta	Placenta
4	chr2:46663200-46671400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:46665200-46668400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:46665400-46668200	Enhancers	K562	blood
7	chr2:46665400-46668400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr2:46665600-46668000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:46665600-46668600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:46665800-46668000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:46665800-46668000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:46665800-46668000	Enhancers	Dnd41	blood
13	chr2:46665800-46668200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:46665800-46668600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:46666200-46667800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:46666200-46668000	Enhancers	Thymus	Thymus
17	chr2:46666200-46668200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:46666200-46668200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:46666400-46668200	Enhancers	Fetal Thymus	thymus
20	chr2:46666600-46667600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:46667000-46667800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:46667000-46688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:46667400-46668000	Enhancers	Primary T cells from cord blood	blood
24	chr2:46667400-46668200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:46667400-46668800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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