Variant report

Variant	rs7175698
Chromosome Location	chr15:78236135-78236136
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	POLR2A	chr15:78235982-78236428	GM12878	blood:	n/a	n/a
2	HEY1	chr15:78235987-78236328	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:78235980-78236337	Hela-S3	cervix:	n/a	n/a
4	NR3C1	chr15:78235974-78236411	A549	lung:	n/a	n/a
5	NR3C1	chr15:78235831-78236358	A549	lung:	n/a	n/a
6	POLR2A	chr15:78236008-78237423	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:78235646-78237325	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:78236032-78236224	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr15:78235991-78237158	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78232364..78235120-chr15:78235300..78238762,3	K562	blood:

Variant related genes	Relation type
ENSG00000214646	TF binding region
ENSG00000214646	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11630788	0.92[ASN][1000 genomes]
rs35271886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62008592	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62008593	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62008594	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7175950	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7175698	RP11-114H24.2	cis	Muscle Skeletal	GTEx
rs7175698	RP11-114H24.2	cis	Nerve Tibial	GTEx
rs7175698	RP11-114H24.2	cis	lung	GTEx
rs7175698	RP11-114H24.2	cis	Artery Aorta	GTEx
rs7175698	RP11-114H24.2	cis	Heart Left Ventricle	GTEx
rs7175698	RP11-114H24.2	cis	Artery Tibial	GTEx
rs7175698	RP11-114H24.2	cis	Thyroid	GTEx
rs7175698	RP11-114H24.2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78226800-78236200	Weak transcription	Spleen	Spleen
2	chr15:78231400-78236400	Weak transcription	Placenta	Placenta
3	chr15:78231600-78236400	Weak transcription	HSMM	muscle
4	chr15:78231800-78236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:78231800-78236400	Weak transcription	Fetal Lung	lung
6	chr15:78232200-78236400	Weak transcription	HSMMtube	muscle
7	chr15:78232800-78236200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:78233000-78236200	Weak transcription	Fetal Intestine Small	intestine
9	chr15:78233000-78236200	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:78233000-78236400	Weak transcription	Fetal Intestine Large	intestine
11	chr15:78233000-78236800	Weak transcription	Esophagus	oesophagus
12	chr15:78234600-78236200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr15:78235200-78236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:78236000-78236200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr15:78236000-78236200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr15:78236000-78236200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr15:78236000-78236400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:78236000-78236400	Enhancers	Brain Anterior Caudate	brain
19	chr15:78236000-78236600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr15:78236000-78236600	Flanking Active TSS	HepG2	liver

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