Variant report

Variant	rs58889877
Chromosome Location	chr2:127772963-127772964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:127771024-127773176	IMR90	lung:	n/a	n/a
2	FOS	chr2:127772204-127773005	MCF10A-Er-Src	breast:	n/a	chr2:127772494-127772505

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127765380..127766934-chr2:127771705..127773507,2	K562	blood:

Variant related genes	Relation type
RNU7-182P	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72974093	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974100	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953197	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127768800-127773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:127769000-127773600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:127769000-127773600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:127769000-127775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:127769200-127773400	Enhancers	NHEK	skin
6	chr2:127769400-127773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:127770400-127773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:127770600-127773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:127770600-127773200	Enhancers	HMEC	breast
10	chr2:127770800-127773800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:127771000-127773400	Enhancers	NHDF-Ad	bronchial
12	chr2:127771400-127773400	Enhancers	NHLF	lung
13	chr2:127771600-127773400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:127771600-127773600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:127771800-127773000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:127771800-127773200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:127771800-127773200	Enhancers	NH-A	brain
18	chr2:127771800-127773400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:127771800-127773400	Enhancers	Osteobl	bone
20	chr2:127771800-127776600	Weak transcription	Fetal Intestine Small	intestine
21	chr2:127772000-127773000	Enhancers	HSMM	muscle
22	chr2:127772000-127773200	Enhancers	HUVEC	blood vessel
23	chr2:127772400-127773800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:127772600-127775200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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