Variant report

Variant	rs1604817
Chromosome Location	chr2:127999921-127999922
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	chr2:127999535-127999963	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127999130..128000995-chr2:128003196..128005474,2	K562	blood:
2	chr2:127994681..127997187-chr2:127997906..128000720,2	K562	blood:

Variant related genes	Relation type
ENSG00000226789	TF binding region
ENSG00000226789	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10178188	0.86[ASN][1000 genomes]
rs10195774	0.82[ASN][1000 genomes]
rs10206392	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10211382	0.85[JPT][hapmap]
rs10439214	0.85[JPT][hapmap]
rs10451530	0.82[ASN][1000 genomes]
rs1128974	0.85[JPT][hapmap]
rs11679414	0.86[CEU][hapmap]
rs13385611	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13421256	0.84[ASN][1000 genomes]
rs13424947	0.82[ASN][1000 genomes]
rs13429050	0.88[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs13431911	0.88[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1504136	0.83[EUR][1000 genomes]
rs2271026	0.85[JPT][hapmap]
rs3732209	0.91[CEU][hapmap]
rs3755310	0.83[ASN][1000 genomes]
rs4150448	0.85[JPT][hapmap]
rs4150487	0.85[JPT][hapmap]
rs4150507	0.82[ASN][1000 genomes]
rs4150512	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4150515	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4536600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662714	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662715	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6430934	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710496	0.84[EUR][1000 genomes]
rs6711086	0.85[JPT][hapmap]
rs6740368	0.86[ASN][1000 genomes]
rs6750648	0.84[ASN][1000 genomes]
rs7567389	0.89[CHB][hapmap];0.85[EUR][1000 genomes]
rs7584829	0.82[ASN][1000 genomes]
rs7586961	0.86[ASN][1000 genomes]
rs7590030	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1604817	PROC	cis	multi-tissue	Pritchard
rs1604817	AC068282.3	cis	Whole Blood	GTEx
rs1604817	AC068282.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127984600-128012800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:127989400-128013000	Weak transcription	Pancreas	Pancrea
3	chr2:127996400-128013400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:127996400-128013400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:127999200-128012200	Weak transcription	Liver	Liver
6	chr2:127999600-128000000	ZNF genes & repeats	Fetal Intestine Small	intestine

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