Variant report

Variant	rs12230951
Chromosome Location	chr12:45054964-45054965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44969862..44971454-chr12:45054556..45057054,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11182546	0.85[ASN][1000 genomes]
rs11182547	0.85[ASN][1000 genomes]
rs11182553	0.90[ASN][1000 genomes]
rs11182554	0.90[ASN][1000 genomes]
rs11182555	0.90[ASN][1000 genomes]
rs11182558	0.90[ASN][1000 genomes]
rs11182561	0.90[ASN][1000 genomes]
rs11182564	0.90[ASN][1000 genomes]
rs11182565	0.90[ASN][1000 genomes]
rs11182566	0.90[ASN][1000 genomes]
rs11182567	0.85[ASN][1000 genomes]
rs11182568	0.85[ASN][1000 genomes]
rs11182570	0.90[ASN][1000 genomes]
rs11182571	0.90[ASN][1000 genomes]
rs11182573	0.85[ASN][1000 genomes]
rs11182574	0.90[ASN][1000 genomes]
rs11182575	0.85[ASN][1000 genomes]
rs11182576	0.90[ASN][1000 genomes]
rs11182577	0.90[ASN][1000 genomes]
rs11182578	0.85[ASN][1000 genomes]
rs11182582	0.85[ASN][1000 genomes]
rs11182583	0.90[ASN][1000 genomes]
rs11182584	0.90[ASN][1000 genomes]
rs11182585	0.90[ASN][1000 genomes]
rs11182587	0.90[ASN][1000 genomes]
rs11182589	0.90[ASN][1000 genomes]
rs11182591	0.90[ASN][1000 genomes]
rs11182593	0.95[ASN][1000 genomes]
rs11182594	1.00[ASN][1000 genomes]
rs11182600	1.00[ASN][1000 genomes]
rs11182601	1.00[ASN][1000 genomes]
rs11182602	1.00[ASN][1000 genomes]
rs11182605	1.00[ASN][1000 genomes]
rs11182606	1.00[ASN][1000 genomes]
rs11182609	1.00[ASN][1000 genomes]
rs11182610	0.95[ASN][1000 genomes]
rs11182611	1.00[ASN][1000 genomes]
rs11182613	1.00[ASN][1000 genomes]
rs11182614	1.00[ASN][1000 genomes]
rs11182615	1.00[ASN][1000 genomes]
rs11182616	1.00[ASN][1000 genomes]
rs11182619	0.85[ASN][1000 genomes]
rs11182620	0.85[ASN][1000 genomes]
rs11531203	1.00[ASN][1000 genomes]
rs12227198	0.90[ASN][1000 genomes]
rs12227809	0.90[ASN][1000 genomes]
rs12228607	0.91[ASN][1000 genomes]
rs12228891	0.90[ASN][1000 genomes]
rs12229413	0.90[ASN][1000 genomes]
rs12229463	1.00[ASN][1000 genomes]
rs1452886	0.85[ASN][1000 genomes]
rs4768069	0.85[ASN][1000 genomes]
rs59098139	0.85[ASN][1000 genomes]
rs61671085	0.85[ASN][1000 genomes]
rs6582510	0.85[ASN][1000 genomes]
rs6582511	0.85[ASN][1000 genomes]
rs74081513	0.85[ASN][1000 genomes]
rs74081517	0.81[ASN][1000 genomes]
rs7961698	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45049400-45069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45050400-45061200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:45050800-45060000	Weak transcription	Fetal Brain Female	brain
7	chr12:45051800-45081200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:45053600-45055200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45054000-45055600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:45054400-45056600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45054800-45055200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:45054800-45055200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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