Variant report

Variant	rs513944
Chromosome Location	chr11:120094936-120094937
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	chr11:120088424..120091961-chr11:120094010..120097522,6	K562	blood:
2	chr11:120082525..120086305-chr11:120094464..120096217,3	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1287393	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1287395	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253006	0.95[EUR][1000 genomes]
rs2444241	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2444242	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444243	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508495	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508496	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509623	0.95[EUR][1000 genomes]
rs2845702	0.89[EUR][1000 genomes]
rs2845708	1.00[EUR][1000 genomes]
rs2847499	0.90[EUR][1000 genomes]
rs476809	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477863	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs489454	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs492275	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs521841	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs536743	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs537907	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs540857	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs547990	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs562966	0.95[ASN][1000 genomes]
rs896695	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
4	chr11:120086400-120097000	Weak transcription	NHEK	skin
5	chr11:120086600-120095800	Weak transcription	NH-A	brain
6	chr11:120089800-120095600	Weak transcription	Lung	lung
7	chr11:120089800-120099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120090200-120095800	Weak transcription	Fetal Heart	heart
9	chr11:120090400-120095400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:120090800-120095400	Weak transcription	Fetal Lung	lung
11	chr11:120090800-120095600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:120090800-120099600	Weak transcription	NHDF-Ad	bronchial
13	chr11:120091000-120095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:120091000-120096600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:120091000-120097400	Weak transcription	NHLF	lung
16	chr11:120091000-120097600	Genic enhancers	Liver	Liver
17	chr11:120091000-120102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:120091200-120095400	Weak transcription	HSMM	muscle
19	chr11:120091200-120096800	Enhancers	Adipose Nuclei	Adipose
20	chr11:120091200-120097000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:120091400-120095000	Strong transcription	Fetal Stomach	stomach
22	chr11:120091400-120095400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:120091600-120095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:120091800-120095200	Weak transcription	Placenta	Placenta
25	chr11:120091800-120097600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:120092000-120095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:120092200-120095600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:120092200-120095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:120092600-120095600	Weak transcription	GM12878-XiMat	blood
30	chr11:120092600-120096400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:120092800-120095000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:120092800-120095400	Weak transcription	Fetal Thymus	thymus
33	chr11:120092800-120095600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:120092800-120095600	Weak transcription	Brain Substantia Nigra	brain
35	chr11:120092800-120095800	Weak transcription	Brain Anterior Caudate	brain
36	chr11:120092800-120097000	Weak transcription	Gastric	stomach
37	chr11:120092800-120102000	Weak transcription	Brain Angular Gyrus	brain
38	chr11:120093000-120095400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:120093000-120095400	Weak transcription	Colonic Mucosa	Colon
40	chr11:120093000-120095400	Strong transcription	Fetal Intestine Large	intestine
41	chr11:120093000-120095600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:120093000-120096400	Weak transcription	Esophagus	oesophagus
43	chr11:120093600-120095200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:120093600-120095800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:120093600-120100600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:120093800-120095200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:120093800-120095400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:120093800-120095600	Enhancers	Psoas Muscle	Psoas
49	chr11:120093800-120095600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr11:120093800-120096800	Enhancers	Colon Smooth Muscle	Colon

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