Variant report

Variant	rs1262323
Chromosome Location	chr11:57017317-57017318
allele	A/G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr11:56608400..56609354-chr11:57016455..57017401,5	MCF-7	breast:
7	chr11:56897171..56899424-chr11:57016274..57018526,19	MCF-7	breast:
8	chr11:56891684..56895187-chr11:57015179..57019419,3	K562	blood:
9	chr11:56608476..56609545-chr11:57016926..57017835,4	K562	blood:

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12296071	1.00[AMR][1000 genomes]
rs2508769	1.00[AMR][1000 genomes]
rs2508771	1.00[AMR][1000 genomes]
rs2846040	1.00[AMR][1000 genomes]
rs2846043	1.00[AMR][1000 genomes]
rs2846045	1.00[AMR][1000 genomes]
rs2846047	1.00[AMR][1000 genomes]
rs2846048	1.00[AMR][1000 genomes]
rs2851724	1.00[AMR][1000 genomes]
rs481516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501160	1.00[AMR][1000 genomes]
rs546403	1.00[AMR][1000 genomes]
rs559168	1.00[AMR][1000 genomes]
rs639248	1.00[AMR][1000 genomes]
rs641550	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs652353	1.00[AMR][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	chr11:57016400-57017400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57016400-57017600	Enhancers	K562	blood
4	chr11:57016400-57017800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:57016400-57019400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:57016400-57019600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:57016400-57020800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:57016400-57020800	Enhancers	HMEC	breast
9	chr11:57016600-57017800	Enhancers	Placenta	Placenta
10	chr11:57016800-57018000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:57017000-57017400	Enhancers	Adipose Nuclei	Adipose
12	chr11:57017000-57018400	Weak transcription	Left Ventricle	heart
13	chr11:57017000-57018400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:57017000-57018600	Weak transcription	Psoas Muscle	Psoas
15	chr11:57017000-57018600	Weak transcription	Right Atrium	heart
16	chr11:57017000-57018800	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:57017000-57018800	Weak transcription	Lung	lung
18	chr11:57017000-57019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:57017000-57020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:57017000-57021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:57017000-57021000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:57017200-57017600	Enhancers	A549	lung
23	chr11:57017200-57017800	Enhancers	NHEK	skin
24	chr11:57017200-57018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:57017200-57018400	Weak transcription	Liver	Liver
26	chr11:57017200-57018400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:57017200-57019600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:57017200-57019600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:57017200-57023200	Weak transcription	HSMMtube	muscle
30	chr11:57017200-57026000	Weak transcription	Fetal Brain Male	brain

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