Variant report

Variant	rs11180894
Chromosome Location	chr12:41797630-41797631
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10880083	0.81[ASN][1000 genomes]
rs10880085	0.81[ASN][1000 genomes]
rs11180893	0.96[ASN][1000 genomes]
rs11180901	0.95[ASN][1000 genomes]
rs11180902	0.98[ASN][1000 genomes]
rs11180903	0.98[ASN][1000 genomes]
rs11180904	0.98[ASN][1000 genomes]
rs11180910	0.95[ASN][1000 genomes]
rs11180913	0.95[ASN][1000 genomes]
rs11180917	0.91[ASN][1000 genomes]
rs11180921	0.91[ASN][1000 genomes]
rs11180922	0.91[ASN][1000 genomes]
rs11180941	0.84[ASN][1000 genomes]
rs11180945	0.84[ASN][1000 genomes]
rs11180954	0.81[ASN][1000 genomes]
rs11180955	0.81[ASN][1000 genomes]
rs12231433	0.95[ASN][1000 genomes]
rs12231803	0.91[ASN][1000 genomes]
rs12582204	0.91[ASN][1000 genomes]
rs7969769	0.91[ASN][1000 genomes]
rs7979435	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv899036	chr12:41777144-41807859	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv899037	chr12:41777144-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1044910	chr12:41778831-41813198	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv2761735	chr12:41780758-41811938	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv2757501	chr12:41780758-41816002	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv2759896	chr12:41780758-41816002	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv2755020	chr12:41780758-41820936	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv899038	chr12:41784137-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv818915	chr12:41784997-41811063	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv899039	chr12:41784997-41813207	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv1050627	chr12:41789891-41809009	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
14	esv3338595	chr12:41794910-41797658	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41796600-41797800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:41796800-41797800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:41797000-41797800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:41797000-41798000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:41797000-41798400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:41797000-41800600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:41797200-41797800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:41797600-41798200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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