Variant report

Variant	rs11180573
Chromosome Location	chr12:75958961-75958962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10082902	0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11180571	0.91[ASW][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11180572	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11180578	0.84[AFR][1000 genomes]
rs12300622	1.00[MEX][hapmap]
rs12312606	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315633	0.83[AFR][1000 genomes]
rs12318161	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60131646	0.84[AFR][1000 genomes]
rs73191021	1.00[ASN][1000 genomes]
rs73361929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361945	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378325	0.86[AFR][1000 genomes]
rs73378350	0.84[AFR][1000 genomes]
rs7962381	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75950800-75959600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:75953800-75959000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:75954600-75964800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:75956400-75961400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:75957000-75959000	Enhancers	HUVEC	blood vessel
6	chr12:75957200-75959000	Enhancers	NHDF-Ad	bronchial
7	chr12:75957200-75960200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:75957800-75959000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:75958200-75959000	Enhancers	Fetal Muscle Leg	muscle
10	chr12:75958200-75959000	Enhancers	Fetal Stomach	stomach
11	chr12:75958200-75959000	Enhancers	Spleen	Spleen
12	chr12:75958400-75959800	Weak transcription	Esophagus	oesophagus
13	chr12:75958600-75959000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:75958600-75959000	Enhancers	Adipose Nuclei	Adipose
15	chr12:75958600-75959000	Enhancers	NHLF	lung
16	chr12:75958600-75962000	Weak transcription	Osteobl	bone
17	chr12:75958800-75959000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:75958800-75959400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:75958800-75965000	Weak transcription	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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