Variant report

Variant	rs518272
Chromosome Location	chr11:57017557-57017558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:56608365..56609372-chr11:57017133..57018075,3	MCF-7	breast:
2	chr11:56883857..56884825-chr11:57016233..57017822,10	MCF-7	breast:
3	chr11:56769288..56770290-chr11:57016463..57017822,3	K562	blood:
4	chr11:56883739..56884861-chr11:57016166..57017852,7	K562	blood:
5	chr11:56898268..56899163-chr11:57016603..57017757,8	K562	blood:
6	chr11:56897171..56899424-chr11:57016274..57018526,19	MCF-7	breast:
7	chr11:56891684..56895187-chr11:57015179..57019419,3	K562	blood:
8	chr11:56608476..56609545-chr11:57016926..57017835,4	K562	blood:

No data

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10400305	1.00[CHB][hapmap]
rs10792093	0.86[ASN][1000 genomes]
rs10896598	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10896604	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs10896608	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs10896613	0.86[ASN][1000 genomes]
rs11228973	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228991	0.87[EUR][1000 genomes]
rs11228997	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs11229017	0.86[ASN][1000 genomes]
rs11606862	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12272063	0.86[ASN][1000 genomes]
rs12364724	0.80[EUR][1000 genomes]
rs2155232	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155233	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668408	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67221365	0.86[ASN][1000 genomes]
rs7102952	0.86[ASN][1000 genomes]
rs7107352	0.86[ASN][1000 genomes]
rs7111339	1.00[CEU][hapmap]
rs7129491	1.00[CEU][hapmap];0.91[TSI][hapmap]
rs73470506	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57013000-57017600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:57016400-57017600	Enhancers	K562	blood
3	chr11:57016400-57017800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:57016400-57019400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:57016400-57019600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:57016400-57020800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:57016400-57020800	Enhancers	HMEC	breast
8	chr11:57016600-57017800	Enhancers	Placenta	Placenta
9	chr11:57016800-57018000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:57017000-57018400	Weak transcription	Left Ventricle	heart
11	chr11:57017000-57018400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:57017000-57018600	Weak transcription	Psoas Muscle	Psoas
13	chr11:57017000-57018600	Weak transcription	Right Atrium	heart
14	chr11:57017000-57018800	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:57017000-57018800	Weak transcription	Lung	lung
16	chr11:57017000-57019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:57017000-57020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:57017000-57021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:57017000-57021000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:57017200-57017600	Enhancers	A549	lung
21	chr11:57017200-57017800	Enhancers	NHEK	skin
22	chr11:57017200-57018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:57017200-57018400	Weak transcription	Liver	Liver
24	chr11:57017200-57018400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:57017200-57019600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:57017200-57019600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:57017200-57023200	Weak transcription	HSMMtube	muscle
28	chr11:57017200-57026000	Weak transcription	Fetal Brain Male	brain
29	chr11:57017400-57017800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:57017400-57018400	Weak transcription	Adipose Nuclei	Adipose

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