Variant report

Variant	rs12275492
Chromosome Location	chr11:9099103-9099104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9098428..9102271-chr11:9102420..9106613,4	MCF-7	breast:
2	chr11:9088886..9093572-chr11:9094471..9099536,5	MCF-7	breast:
3	chr11:9097322..9099854-chr11:9158017..9160893,2	MCF-7	breast:
4	chr11:9078089..9081038-chr11:9097785..9099533,2	K562	blood:
5	chr11:9096453..9100009-chr11:9109171..9113548,7	MCF-7	breast:
6	chr11:9094776..9100228-chr11:9109116..9115745,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253973	Chromatin interaction
ENSG00000175356	Chromatin interaction
ENSG00000264984	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11042172	0.94[AMR][1000 genomes]
rs11042173	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12294269	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2016375	1.00[TSI][hapmap]
rs2116513	1.00[TSI][hapmap]
rs4061641	1.00[TSI][hapmap]
rs4243946	1.00[TSI][hapmap]
rs7944713	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv467706	chr11:9077652-9114999	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv553455	chr11:9077652-9114999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9058400-9099800	Weak transcription	Aorta	Aorta
2	chr11:9088200-9112400	Weak transcription	HSMM	muscle
3	chr11:9088400-9100200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:9090200-9099200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:9091800-9099800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:9092800-9099400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:9093400-9099600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:9093400-9100000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:9093400-9110200	Weak transcription	Pancreas	Pancrea
10	chr11:9094200-9099600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:9094400-9100000	Enhancers	HMEC	breast
12	chr11:9094400-9100200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:9094800-9100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:9096200-9099400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:9096200-9099800	Weak transcription	Fetal Lung	lung
16	chr11:9096200-9100000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:9096800-9099600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:9097000-9099400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:9097000-9100600	Enhancers	Colon Smooth Muscle	Colon
20	chr11:9097200-9110400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:9097400-9099400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:9097400-9099800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:9097400-9100000	Enhancers	NHEK	skin
24	chr11:9097400-9105800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:9097800-9099800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:9098400-9099400	Enhancers	Fetal Heart	heart
27	chr11:9098400-9100400	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:9098400-9100400	Enhancers	HSMMtube	muscle
29	chr11:9098400-9100600	Enhancers	Fetal Stomach	stomach
30	chr11:9098400-9101800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:9098600-9100400	Enhancers	Fetal Muscle Leg	muscle
32	chr11:9099000-9100400	Enhancers	Stomach Smooth Muscle	stomach

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