Variant report

Variant	rs472948
Chromosome Location	chr11:120099193-120099194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120098962..120101044-chr11:120122301..120123827,2	K562	blood:
2	chr11:120089189..120092047-chr11:120097539..120099779,2	K562	blood:
3	chr11:120041545..120045663-chr11:120098074..120102653,6	MCF-7	breast:
4	chr11:120091006..120093784-chr11:120097633..120101741,5	K562	blood:
5	chr11:119993941..119995703-chr11:120098281..120100957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1295019	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465654	0.90[ASN][1000 genomes]
rs2508489	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508490	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3225	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs505142	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs580174	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692804	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:120089800-120099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:120090800-120099600	Weak transcription	NHDF-Ad	bronchial
4	chr11:120091000-120102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:120092800-120102000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:120093600-120100600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:120094400-120100200	Strong transcription	HepG2	liver
8	chr11:120094800-120100800	Weak transcription	Stomach Mucosa	stomach
9	chr11:120095800-120100200	Strong transcription	Pancreas	Pancrea
10	chr11:120096000-120099600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:120096000-120100600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:120096000-120100600	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:120096200-120100600	Weak transcription	Fetal Kidney	kidney
14	chr11:120096400-120101000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr11:120096400-120101200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr11:120096400-120102200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:120096600-120099600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:120096600-120099600	Weak transcription	Lung	lung
19	chr11:120096600-120099800	Genic enhancers	Spleen	Spleen
20	chr11:120096600-120100200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:120096600-120100600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:120096600-120100800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
24	chr11:120096800-120100000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:120096800-120100200	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:120096800-120100400	Strong transcription	Colonic Mucosa	Colon
27	chr11:120096800-120101000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:120096800-120102400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:120097000-120099800	Strong transcription	Adipose Nuclei	Adipose
30	chr11:120097000-120100000	Weak transcription	Fetal Lung	lung
31	chr11:120097000-120100000	Strong transcription	Gastric	stomach
32	chr11:120097000-120101200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:120097000-120103000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:120097200-120100200	Strong transcription	Fetal Intestine Small	intestine
35	chr11:120097200-120101000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:120097200-120106200	Weak transcription	Esophagus	oesophagus
37	chr11:120097400-120099200	Weak transcription	Left Ventricle	heart
38	chr11:120097400-120100000	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:120097400-120100400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:120097400-120100400	Strong transcription	NHLF	lung
41	chr11:120097400-120102000	Strong transcription	Fetal Intestine Large	intestine
42	chr11:120097600-120099800	Strong transcription	Ovary	ovary
43	chr11:120097600-120101600	Strong transcription	Liver	Liver
44	chr11:120097600-120102800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:120097800-120099800	Strong transcription	Fetal Stomach	stomach
46	chr11:120097800-120100200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:120097800-120101000	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:120097800-120102400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:120098200-120099400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr11:120098200-120099600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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