Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:75434809..75438272-chr11:75499548..75502403,3	MCF-7	breast:
2	chr11:75434325..75436917-chr11:75510297..75512123,2	MCF-7	breast:
3	chr11:75435487..75437109-chr11:75574380..75576119,2	MCF-7	breast:
4	chr11:75435573..75437495-chr11:75523904..75526096,2	K562	blood:
5	chr11:75434732..75436829-chr11:75444022..75446867,2	K562	blood:

Variant related genes	Relation type
ENSG00000255507	Chromatin interaction

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10899104	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11823410	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238556	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs519091	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531117	0.82[GIH][hapmap]
rs543886	0.86[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs575976	0.93[CEU][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs609799	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644361	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs609379	ARAP1	cis	parietal	SCAN
rs609379	UVRAG	cis	cerebellum	SCAN
rs609379	AQP11	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75429600-75439600	Weak transcription	Fetal Stomach	stomach
2	chr11:75429800-75436800	Weak transcription	Right Atrium	heart
3	chr11:75430200-75436800	Weak transcription	Right Ventricle	heart
4	chr11:75431000-75439800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:75431200-75436800	Weak transcription	Left Ventricle	heart
6	chr11:75431200-75437000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:75433200-75443200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:75433800-75439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:75434000-75436800	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:75434400-75441200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr11:75434800-75436800	Weak transcription	Colonic Mucosa	Colon
12	chr11:75435200-75436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:75435200-75436800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:75435200-75437400	Genic enhancers	Liver	Liver
15	chr11:75435200-75443200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:75435400-75436600	Weak transcription	Fetal Heart	heart
17	chr11:75435600-75442400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr11:75435600-75443000	Strong transcription	Fetal Intestine Large	intestine
19	chr11:75436200-75436600	Weak transcription	Adipose Nuclei	Adipose
20	chr11:75436200-75438200	Weak transcription	HepG2	liver

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