Variant report

Variant	rs12739624
Chromosome Location	chr1:212761057-212761058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212758746..212766071-chr1:212766312..212770844,12	K562	blood:
2	chr1:212752659..212754455-chr1:212760366..212761960,2	K562	blood:
3	chr1:212758858..212761255-chr1:212780047..212782269,3	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

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

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

rs_ID	r²[population]
rs10863981	0.88[MEX][hapmap]
rs3806460	0.83[MEX][hapmap]
rs6674072	0.87[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.94[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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 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	chr1:212754000-212769200	Weak transcription	Spleen	Spleen
2	chr1:212755600-212762600	Enhancers	Placenta	Placenta
3	chr1:212757200-212761200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212757200-212766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:212759200-212761800	Enhancers	GM12878-XiMat	blood
6	chr1:212759600-212761400	Bivalent Enhancer	Osteobl	bone
7	chr1:212759800-212761600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:212760000-212761400	Enhancers	NH-A	brain
9	chr1:212760000-212761600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:212760200-212761400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:212760200-212761600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:212760200-212761800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:212760200-212762200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:212760400-212761200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:212760600-212761200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:212760800-212761400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:212760800-212761400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:212760800-212761600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:212760800-212761600	Bivalent Enhancer	K562	blood
20	chr1:212761000-212761200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:212761000-212761200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr1:212761000-212761600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:212761000-212761800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:212761000-212761800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:212761000-212761800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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