Variant report

Variant	rs7180471
Chromosome Location	chr15:58542770-58542771
allele	A/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	chr15:58542335-58542803	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58540620..58543105-chr15:58543383..58546142,2	K562	blood:
2	chr15:58540767..58543419-chr15:58550091..58552048,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59413009	1.00[EUR][1000 genomes]
rs61532090	1.00[EUR][1000 genomes]
rs7181756	1.00[EUR][1000 genomes]
rs8028651	1.00[EUR][1000 genomes]
rs9888642	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58524800-58547400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:58535000-58546200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:58541000-58543400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:58541000-58552800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:58541200-58543600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:58541200-58543600	Weak transcription	Hela-S3	cervix
7	chr15:58541200-58543600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:58541200-58544200	Weak transcription	Aorta	Aorta
9	chr15:58541600-58542800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr15:58541600-58542800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:58541600-58542800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:58541800-58542800	Enhancers	Fetal Thymus	thymus
13	chr15:58541800-58542800	Enhancers	Dnd41	blood
14	chr15:58541800-58549800	Weak transcription	Placenta	Placenta
15	chr15:58542000-58544600	Weak transcription	Right Ventricle	heart
16	chr15:58542000-58544800	Weak transcription	Right Atrium	heart
17	chr15:58542000-58545000	Weak transcription	Left Ventricle	heart
18	chr15:58542200-58544800	Strong transcription	Liver	Liver
19	chr15:58542400-58543600	Weak transcription	K562	blood
20	chr15:58542400-58544600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:58542400-58544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:58542600-58542800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:58542600-58542800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr15:58542600-58543000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr15:58542600-58543400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:58542600-58543400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr15:58542600-58543600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr15:58542600-58543600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr15:58542600-58550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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