Variant report

Variant	rs2473900
Chromosome Location	chr11:34247462-34247463
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34231932..34233684-chr11:34247435..34249545,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1022722	0.91[ASN][1000 genomes]
rs11032552	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032554	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032555	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11032556	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032557	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032558	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032559	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032561	0.83[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap]
rs11032562	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11604651	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12224748	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12271968	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12272398	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286749	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12417958	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12418582	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12420504	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1883959	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2611089	0.89[ASN][1000 genomes]
rs2746628	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2746629	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs55954105	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56126876	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7120814	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124297	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949361	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1050413	chr11:34237529-34259820	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762905	chr11:34238653-34256130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2473900	HIPK3	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:34245200-34254600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:34245200-34255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:34245200-34255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:34245200-34255800	Weak transcription	HSMMtube	muscle
6	chr11:34245200-34263800	Weak transcription	Right Atrium	heart
7	chr11:34245200-34264200	Weak transcription	Aorta	Aorta
8	chr11:34245400-34251400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:34245400-34254600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:34245400-34255600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:34245400-34255600	Weak transcription	NHLF	lung
12	chr11:34245600-34263600	Weak transcription	Right Ventricle	heart
13	chr11:34246000-34247800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:34246200-34247800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:34246200-34255600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:34246800-34247800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:34246800-34255800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:34247000-34248000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:34247000-34254800	Weak transcription	Fetal Intestine Small	intestine
20	chr11:34247000-34255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:34247000-34257400	Weak transcription	Fetal Stomach	stomach
22	chr11:34247200-34247600	Weak transcription	Rectal Mucosa Donor 31	rectum

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