Variant report

Variant	rs1622914
Chromosome Location	chr15:41789212-41789213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:41785067-41789397	HepG2	liver:	n/a	n/a
2	MAZ	chr15:41789196-41789282	K562	blood:	n/a	n/a
3	SUZ12	chr15:41786226-41789317	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41767730..41772843-chr15:41782564..41789351,11	K562	blood:
2	chr15:41693279..41695491-chr15:41786361..41789615,3	K562	blood:
3	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
4	chr15:41787601..41789591-chr15:41827659..41829404,2	K562	blood:

No data

Variant related genes	Relation type
ITPKA	TF binding region
ENSG00000137806	Chromatin interaction
ENSG00000103932	Chromatin interaction
ENSG00000259838	Chromatin interaction
ENSG00000137815	Chromatin interaction
ENSG00000092445	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1655556	0.82[EUR][1000 genomes]
rs1655557	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1757455	0.81[EUR][1000 genomes]
rs1757456	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1757462	0.99[ASN][1000 genomes]
rs1757463	0.97[ASN][1000 genomes]
rs2026946	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316605	0.83[EUR][1000 genomes]
rs316610	0.82[EUR][1000 genomes]
rs316617	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8024774	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8036527	0.82[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	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv33378	chr15:41786505-41805760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1622914	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs1622914	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs1622914	NDUFAF1	cis	Muscle Skeletal	GTEx
rs1622914	OIP5-AS1	cis	Artery Tibial	GTEx
rs1622914	NDUFAF1	cis	multi-tissue	Pritchard
rs1622914	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs1622914	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs1622914	NDUFAF1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41785400-41789400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr15:41788600-41789400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr15:41788600-41791000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:41788800-41789400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
5	chr15:41788800-41790000	Enhancers	Stomach Mucosa	stomach
6	chr15:41788800-41790200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:41788800-41793400	Weak transcription	Pancreas	Pancrea
8	chr15:41788800-41793800	Weak transcription	Liver	Liver
9	chr15:41789000-41789400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:41789000-41789400	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr15:41789000-41789400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr15:41789000-41789400	Genic enhancers	K562	blood
13	chr15:41789000-41791000	Genic enhancers	Fetal Intestine Small	intestine
14	chr15:41789200-41789400	Enhancers	Gastric	stomach
15	chr15:41789200-41789600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
16	chr15:41789200-41789600	Enhancers	HepG2	liver

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