Variant report

Variant	rs12228891
Chromosome Location	chr12:44997302-44997303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10880664	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11182546	0.85[ASN][1000 genomes]
rs11182547	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs11182553	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182554	1.00[ASN][1000 genomes]
rs11182555	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182558	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182561	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182564	1.00[ASN][1000 genomes]
rs11182565	1.00[ASN][1000 genomes]
rs11182566	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182567	0.95[ASN][1000 genomes]
rs11182568	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11182570	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182571	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182573	0.95[ASN][1000 genomes]
rs11182574	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182575	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11182576	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182577	1.00[ASN][1000 genomes]
rs11182578	0.95[ASN][1000 genomes]
rs11182582	0.95[ASN][1000 genomes]
rs11182583	1.00[ASN][1000 genomes]
rs11182584	1.00[ASN][1000 genomes]
rs11182585	1.00[ASN][1000 genomes]
rs11182587	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182589	1.00[ASN][1000 genomes]
rs11182591	1.00[ASN][1000 genomes]
rs11182593	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11182594	0.82[CHB][hapmap];0.90[ASN][1000 genomes]
rs11182600	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182601	0.90[ASN][1000 genomes]
rs11182602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182605	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182606	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182609	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182610	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs11182611	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182613	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182614	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182615	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182616	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11182619	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11182623	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11182646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182653	1.00[JPT][hapmap]
rs11531203	0.90[ASN][1000 genomes]
rs12227198	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12227809	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12228607	0.81[ASN][1000 genomes]
rs12229413	1.00[ASN][1000 genomes]
rs12229463	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12230951	0.90[ASN][1000 genomes]
rs1452886	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17094988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768069	0.95[ASN][1000 genomes]
rs59098139	0.95[ASN][1000 genomes]
rs61671085	0.95[ASN][1000 genomes]
rs6582510	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6582511	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs74081513	0.95[ASN][1000 genomes]
rs74081517	0.91[ASN][1000 genomes]
rs7961698	1.00[JPT][hapmap];0.95[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	esv2762976	chr12:44969431-45000228	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:44977400-44998800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:44986600-45006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:44987200-44997600	Weak transcription	Fetal Brain Male	brain
8	chr12:44990400-45004800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:44991600-44997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:44992000-44999400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:44992200-45006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:44993000-45006800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:44994400-45004200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:44995800-45001400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:44995800-45003000	Weak transcription	Fetal Brain Female	brain
16	chr12:44996200-44997400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:44996800-44998400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:44997000-44999400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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