Variant report

Variant	rs287983
Chromosome Location	chr2:9977737-9977738
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9976315..9980346-chr2:9980787..9986180,6	MCF-7	breast:
2	chr2:9975331..9978293-chr2:9978387..9980016,2	K562	blood:
3	chr2:9977110..9979149-chr2:10258844..10261350,2	K562	blood:
4	chr2:9975372..9980699-chr2:9981311..9986654,9	K562	blood:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16867203	0.82[MEX][hapmap]
rs17454513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56699826	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57441833	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61462423	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68010549	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72782619	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72782623	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72782660	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72782668	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72782669	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72782688	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72782696	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873627	chr2:9949464-9982608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv873628	chr2:9949464-9985670	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
8	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9955200-9983000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:9972600-9983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:9976200-9978000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:9976200-9978000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:9976200-9978000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:9976400-9977800	Enhancers	NHDF-Ad	bronchial
7	chr2:9976400-9977800	Enhancers	Osteobl	bone
8	chr2:9976400-9978000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:9976400-9979800	Enhancers	Placenta	Placenta
10	chr2:9976600-9977800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:9976600-9977800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:9976600-9977800	Enhancers	HSMM	muscle
13	chr2:9976600-9977800	Enhancers	HSMMtube	muscle
14	chr2:9976800-9977800	Enhancers	NHLF	lung
15	chr2:9976800-9978000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:9976800-9978000	Enhancers	HMEC	breast
17	chr2:9976800-9978000	Enhancers	NHEK	skin
18	chr2:9977000-9983000	Weak transcription	Adipose Nuclei	Adipose
19	chr2:9977200-9977800	Enhancers	Hela-S3	cervix
20	chr2:9977200-9978000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:9977200-9982600	Weak transcription	K562	blood
22	chr2:9977200-9983000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:9977200-9983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:9977600-9983000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:9977600-9983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:9977600-9983000	Weak transcription	Placenta Amnion	Placenta Amnion

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