Variant report

Variant	rs555985057
Chromosome Location	chr2:127771656-127771657
allele	G/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	CTCF	chr2:127771540-127771690	HPAF	blood vessel:	n/a	chr2:127771607-127771616 chr2:127771601-127771619
2	FOXA1	chr2:127771516-127771848	HepG2	liver:	n/a	n/a
3	CTCF	chr2:127771520-127771670	HBMEC	blood vessel:	n/a	chr2:127771607-127771616 chr2:127771601-127771619
4	POLR2A	chr2:127771024-127773176	IMR90	lung:	n/a	n/a
5	FOXA1	chr2:127771516-127771919	HepG2	liver:	n/a	n/a
6	CTCF	chr2:127771540-127771690	HBMEC	blood vessel:	n/a	chr2:127771607-127771616 chr2:127771601-127771619
7	FOXA1	chr2:127771514-127771789	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127770472..127772190-chr2:127775592..127777770,2	K562	blood:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127768800-127771800	Enhancers	Fetal Intestine Small	intestine
2	chr2:127768800-127773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:127769000-127771800	Enhancers	Fetal Intestine Large	intestine
4	chr2:127769000-127773600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:127769000-127773600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:127769000-127775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127769200-127772000	Weak transcription	HSMM	muscle
8	chr2:127769200-127773400	Enhancers	NHEK	skin
9	chr2:127769400-127773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:127770000-127771800	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:127770000-127772000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:127770400-127772400	Bivalent Enhancer	HepG2	liver
13	chr2:127770400-127773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:127770600-127773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:127770600-127773200	Enhancers	HMEC	breast
16	chr2:127770800-127773800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:127771000-127773400	Enhancers	NHDF-Ad	bronchial
18	chr2:127771200-127771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:127771400-127771800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:127771400-127773400	Enhancers	NHLF	lung
21	chr2:127771600-127771800	Bivalent Enhancer	Osteobl	bone
22	chr2:127771600-127772200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:127771600-127772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:127771600-127773400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:127771600-127773600	Enhancers	Primary monocytes fromperipheralblood	blood

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