Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
2	chr11:119999095..120001127-chr11:120038214..120040210,2	MCF-7	breast:
3	chr11:119995303..119997544-chr11:119999140..120002182,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction
ENSG00000176984	Chromatin interaction

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2511023	0.84[EUR][1000 genomes]
rs477337	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs504236	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs504976	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562015	0.83[ASN][1000 genomes]
rs569044	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea
2	chr11:119997600-120003200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr11:119998600-120001200	Enhancers	Colon Smooth Muscle	Colon
4	chr11:119999000-120001400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:119999000-120001600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:119999000-120006400	Enhancers	Placenta	Placenta
7	chr11:120000200-120001400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:120000200-120001400	Enhancers	Hela-S3	cervix
9	chr11:120000200-120001800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:120000200-120003400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
11	chr11:120000400-120001200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:120000400-120001600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:120000400-120002200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:120000400-120008400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:120000600-120002600	Weak transcription	Fetal Intestine Large	intestine
16	chr11:120000600-120002800	Weak transcription	Colonic Mucosa	Colon
17	chr11:120000600-120002800	Genic enhancers	NHEK	skin
18	chr11:120000600-120006400	Weak transcription	Fetal Thymus	thymus
19	chr11:120000800-120002600	Weak transcription	Fetal Intestine Small	intestine
20	chr11:120000800-120003200	Genic enhancers	HMEC	breast

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