Variant report

Variant	rs5030967
Chromosome Location	chr6:27220519-27220520
allele	C/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	chr6:27216644-27224576	K562	blood:	n/a	n/a
2	JUN	chr6:27218635-27221218	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26285137..26286889-chr6:27219184..27221854,2	MCF-7	breast:
2	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
3	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:

Variant related genes	Relation type
PRSS16	TF binding region
ENSG00000265565	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17687319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17687372	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17687396	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60412449	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3366700	chr6:27218098-27220596	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5030967	ZNF204P	cis	Muscle Skeletal	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27218400-27220600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:27219800-27222200	Weak transcription	Right Atrium	heart
3	chr6:27220000-27220600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:27220000-27223200	Weak transcription	Gastric	stomach
5	chr6:27220000-27225000	Weak transcription	Esophagus	oesophagus
6	chr6:27220000-27226000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:27220000-27228000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27220000-27228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:27220200-27220600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:27220200-27220600	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr6:27220200-27220600	Bivalent Enhancer	Placenta	Placenta
12	chr6:27220200-27220800	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:27220200-27221000	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr6:27220200-27222200	Enhancers	Pancreas	Pancrea
15	chr6:27220200-27222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:27220200-27222600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:27220200-27226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:27220200-27227800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:27220200-27228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:27220200-27228200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:27220400-27220600	Enhancers	GM12878-XiMat	blood
22	chr6:27220400-27220600	Enhancers	K562	blood
23	chr6:27220400-27221200	ZNF genes & repeats	Lung	lung
24	chr6:27220400-27228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:27220400-27228200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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