Variant report

Variant	rs11722847
Chromosome Location	chr4:120233121-120233122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120230931..120233394-chr4:120986011..120987625,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10518301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935130	0.82[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs11937425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644283	0.81[CHD][hapmap]
rs12645079	0.93[CHD][hapmap];0.81[JPT][hapmap]
rs12645965	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs12647635	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13118936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049968	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs1858285	0.82[CHB][hapmap];0.94[CHD][hapmap]
rs2102541	0.81[CHD][hapmap]
rs28421394	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28848291	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28864107	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34049297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364243	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834768	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4834769	0.80[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs56344202	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879840	chr4:120227419-120257417	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11722847	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs11722847	FABP2	cis	Whole Blood	GTEx
rs11722847	USP53	cis	parietal	SCAN
rs11722847	METTL14	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120222200-120244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:120222400-120240800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:120222800-120240800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:120225000-120238800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:120228200-120238600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:120229200-120238400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:120232800-120234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:120232800-120235200	Weak transcription	Osteobl	bone
10	chr4:120232800-120235400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:120232800-120235400	Weak transcription	NHDF-Ad	bronchial
12	chr4:120233000-120235000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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