Variant report

Variant	rs12593737
Chromosome Location	chr15:58556234-58556235
allele	A/C
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	GATA3	chr15:58556189-58556738	SK-N-SH	brain:	n/a	chr15:58556449-58556456 chr15:58556450-58556462

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58553979..58557970-chr15:58560575..58563562,3	K562	blood:
2	chr15:58555185..58557970-chr15:58559475..58563925,5	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12591884	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594224	1.00[CHB][hapmap]
rs12594421	0.85[ASN][1000 genomes]
rs73416426	1.00[ASN][1000 genomes]
rs8032466	1.00[CHB][hapmap]
rs8032700	1.00[CHB][hapmap]
rs8033458	1.00[CHB][hapmap]
rs8039902	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
7	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr15:58547800-58557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:58549600-58558600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:58550400-58561800	Weak transcription	Liver	Liver
4	chr15:58553200-58562200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:58553400-58557000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:58553400-58562400	Weak transcription	Spleen	Spleen
7	chr15:58553600-58556600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:58553600-58559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:58553600-58559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:58553800-58557200	Enhancers	Right Atrium	heart
11	chr15:58553800-58557200	Enhancers	Hela-S3	cervix
12	chr15:58554000-58556800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:58554000-58559200	Weak transcription	HMEC	breast
14	chr15:58554200-58574400	Weak transcription	Left Ventricle	heart
15	chr15:58554800-58557200	Enhancers	Fetal Thymus	thymus
16	chr15:58555000-58556600	Enhancers	K562	blood
17	chr15:58555000-58557200	Enhancers	Placenta	Placenta
18	chr15:58555200-58559200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:58555400-58556600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:58556000-58556800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr15:58556000-58557400	Enhancers	Dnd41	blood
22	chr15:58556200-58556400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:58556200-58556400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr15:58556200-58556600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:58556200-58556800	Enhancers	NHEK	skin

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