Variant report

Variant	rs72873772
Chromosome Location	chr2:46691259-46691260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46690811..46691473-chr2:46877824..46878328,2	MCF-7	breast:
2	chr2:46689699..46691726-chr2:46876949..46878642,2	K562	blood:
3	chr2:46689398..46691303-chr2:46766550..46769344,2	MCF-7	breast:
4	chr2:46688831..46694095-chr2:46695879..46699021,6	K562	blood:
5	chr2:46630338..46632777-chr2:46688493..46691339,2	K562	blood:
6	chr2:46691026..46692360-chr2:46877376..46878456,8	K562	blood:
7	chr2:46689308..46691938-chr2:46875674..46878193,3	MCF-7	breast:
8	chr2:46690352..46691867-chr2:46842871..46845285,2	K562	blood:
9	chr2:46690029..46692779-chr2:46842870..46844853,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151665	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000250565	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11125078	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12470939	0.86[EUR][1000 genomes]
rs12471274	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12473673	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12474961	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12474965	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475015	0.86[ASN][1000 genomes]
rs12612916	0.88[EUR][1000 genomes]
rs12613088	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12617193	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12619386	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12619696	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12619754	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12621486	0.94[EUR][1000 genomes]
rs12622818	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1530623	0.86[EUR][1000 genomes]
rs1551123	0.97[EUR][1000 genomes]
rs1562454	0.97[EUR][1000 genomes]
rs17035200	0.94[EUR][1000 genomes]
rs1868095	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1868845	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2053766	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2121699	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2166746	0.86[EUR][1000 genomes]
rs2276556	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2881326	0.83[EUR][1000 genomes]
rs34405528	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35589072	0.89[EUR][1000 genomes]
rs4145835	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952825	0.89[ASN][1000 genomes]
rs4952826	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952827	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4953364	0.89[EUR][1000 genomes]
rs4953370	0.86[EUR][1000 genomes]
rs4953376	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4953395	0.94[EUR][1000 genomes]
rs55871716	0.94[EUR][1000 genomes]
rs56894248	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57720200	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57996107	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58402726	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58725320	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59013670	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59761895	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59856996	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60685999	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61193538	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61560601	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66533451	0.94[EUR][1000 genomes]
rs6714240	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6723195	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67739992	0.94[EUR][1000 genomes]
rs67960524	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68030749	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618620	0.83[EUR][1000 genomes]
rs72618621	0.83[EUR][1000 genomes]
rs72618622	0.86[EUR][1000 genomes]
rs72618623	0.86[EUR][1000 genomes]
rs72618624	0.86[EUR][1000 genomes]
rs72618625	0.86[EUR][1000 genomes]
rs72618626	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618627	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618628	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618629	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618631	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618632	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7573688	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7574467	0.86[EUR][1000 genomes]
rs7595513	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9710956	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
8	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
9	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46686400-46704400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:46686800-46691600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:46687600-46691600	Enhancers	NHDF-Ad	bronchial
4	chr2:46687600-46691800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:46687800-46691800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:46688200-46691600	Weak transcription	Fetal Brain Male	brain
7	chr2:46688400-46691800	Enhancers	Osteobl	bone
8	chr2:46688600-46691400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:46688600-46691400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:46688600-46691400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:46688600-46691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:46688600-46691400	Weak transcription	Fetal Heart	heart
13	chr2:46688600-46691400	Weak transcription	Right Ventricle	heart
14	chr2:46688600-46691400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:46688600-46691400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:46688600-46691400	Weak transcription	Spleen	Spleen
17	chr2:46688600-46691600	Weak transcription	Fetal Brain Female	brain
18	chr2:46688600-46691800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:46688800-46691400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:46688800-46691800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:46689000-46691400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:46689000-46691400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:46689000-46691400	Weak transcription	Brain Anterior Caudate	brain
24	chr2:46689000-46691400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:46689000-46691400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:46689000-46691600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:46689000-46696800	Weak transcription	K562	blood
28	chr2:46689200-46691400	Weak transcription	A549	lung
29	chr2:46689200-46691800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:46689200-46696600	Weak transcription	Fetal Thymus	thymus
31	chr2:46689200-46698600	Weak transcription	Hela-S3	cervix
32	chr2:46689200-46704800	Weak transcription	Placenta	Placenta
33	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
34	chr2:46689600-46691600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:46689600-46691800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:46689800-46691400	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:46689800-46697000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:46689800-46697400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:46690000-46691800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:46690000-46696800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:46691000-46691800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:46691200-46691800	Enhancers	Adipose Nuclei	Adipose
43	chr2:46691200-46691800	Enhancers	Colon Smooth Muscle	Colon
44	chr2:46691200-46691800	Enhancers	Left Ventricle	heart
45	chr2:46691200-46691800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr2:46691200-46692000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:46691200-46692000	Enhancers	Brain Substantia Nigra	brain

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