Variant report

Variant	rs591596
Chromosome Location	chr11:119938994-119938995
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	chr11:119934727..119936413-chr11:119938054..119939756,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10790363	0.98[ASN][1000 genomes]
rs1790469	0.92[ASN][1000 genomes]
rs582545	0.88[ASN][1000 genomes]
rs584620	0.80[ASN][1000 genomes]
rs587308	0.80[ASN][1000 genomes]
rs587793	0.86[CHB][hapmap]
rs592565	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593319	0.98[ASN][1000 genomes]
rs597253	0.97[ASN][1000 genomes]
rs603179	0.82[ASN][1000 genomes]
rs625573	0.85[ASN][1000 genomes]
rs630332	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs635335	0.88[ASN][1000 genomes]
rs640663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643377	0.88[ASN][1000 genomes]
rs645233	0.98[ASN][1000 genomes]
rs669812	0.85[ASN][1000 genomes]
rs671334	0.82[ASN][1000 genomes]
rs680630	0.82[ASN][1000 genomes]
rs681569	0.88[ASN][1000 genomes]
rs688857	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119933800-119939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:119934200-119939000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:119935200-119943000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:119936600-119939200	Enhancers	GM12878-XiMat	blood
5	chr11:119937200-119939200	Enhancers	Fetal Brain Male	brain
6	chr11:119937800-119939200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:119937800-119939200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:119938000-119940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:119938200-119939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:119938400-119939000	Enhancers	Fetal Kidney	kidney
11	chr11:119938400-119939600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:119938400-119939600	Enhancers	Fetal Stomach	stomach
13	chr11:119938400-119939800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:119938600-119939000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:119938600-119939000	Enhancers	Spleen	Spleen
16	chr11:119938600-119939400	Enhancers	Placenta	Placenta
17	chr11:119938800-119939000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:119938800-119939000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:119938800-119939000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:119938800-119939200	Enhancers	Fetal Lung	lung
21	chr11:119938800-119939200	Enhancers	HSMMtube	muscle
22	chr11:119938800-119939800	Weak transcription	Fetal Brain Female	brain
23	chr11:119938800-119951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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