Variant report

Variant	rs59227412
Chromosome Location	chr11:120232573-120232574
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120205280..120207973-chr11:120230843..120232754,2	K562	blood:
2	chr11:120221907..120224622-chr11:120232208..120233856,2	K562	blood:
3	chr11:120221867..120224622-chr11:120232208..120234590,2	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17123851	1.00[EUR][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	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	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120216000-120239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:120216400-120244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:120217400-120234000	Weak transcription	Aorta	Aorta
4	chr11:120217600-120257000	Weak transcription	HSMM	muscle
5	chr11:120220400-120232800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:120224800-120248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:120225000-120248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:120225200-120233800	Weak transcription	NHEK	skin
10	chr11:120225200-120234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:120225200-120242200	Weak transcription	A549	lung
12	chr11:120225200-120251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:120225800-120242200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:120226400-120242400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:120226400-120246800	Weak transcription	Small Intestine	intestine
16	chr11:120229800-120234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:120229800-120234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:120229800-120236600	Weak transcription	GM12878-XiMat	blood
19	chr11:120230000-120234400	Weak transcription	Psoas Muscle	Psoas
20	chr11:120231000-120233800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:120231800-120232800	Weak transcription	NHDF-Ad	bronchial
22	chr11:120231800-120233000	Enhancers	Left Ventricle	heart
23	chr11:120231800-120233000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:120231800-120233400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:120231800-120233400	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:120232000-120274800	Weak transcription	Ovary	ovary
27	chr11:120232200-120233000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:120232200-120233200	Enhancers	Fetal Heart	heart
29	chr11:120232200-120233600	Enhancers	Osteobl	bone
30	chr11:120232200-120234400	Weak transcription	Gastric	stomach
31	chr11:120232200-120234400	Weak transcription	Pancreas	Pancrea
32	chr11:120232200-120238400	Weak transcription	Right Ventricle	heart
33	chr11:120232200-120238800	Weak transcription	Right Atrium	heart
34	chr11:120232400-120233200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:120232400-120234000	Enhancers	NHLF	lung
36	chr11:120232400-120234200	Enhancers	HUVEC	blood vessel

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