Variant report

Variant	rs12819409
Chromosome Location	chr12:9187136-9187137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:9186537-9187154	H1-neurons	neurons:	n/a	n/a
2	REST	chr12:9186401-9187199	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000255776	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12303154	0.96[ASN][1000 genomes]
rs12322917	0.93[ASN][1000 genomes]
rs12423652	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12809367	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12811795	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812329	0.87[AMR][1000 genomes]
rs12816157	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12819575	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12822685	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12826054	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12826978	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12827501	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828013	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17730331	0.96[ASN][1000 genomes]
rs17730391	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805668	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805669	0.96[ASN][1000 genomes]
rs1805670	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805671	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805672	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805673	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805674	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805675	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805676	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805707	0.96[ASN][1000 genomes]
rs1805716	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2159959	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2159960	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2377678	0.93[ASN][1000 genomes]
rs2377679	0.93[ASN][1000 genomes]
rs2377680	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2889705	0.93[ASN][1000 genomes]
rs3026243	0.96[ASN][1000 genomes]
rs3026244	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3026251	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3026252	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34236568	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34365749	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34533518	0.96[ASN][1000 genomes]
rs34651717	0.96[ASN][1000 genomes]
rs34722215	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34920912	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35176717	0.96[ASN][1000 genomes]
rs35377225	0.96[ASN][1000 genomes]
rs35557651	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35596029	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35882740	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36061702	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3741854	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4883206	0.93[ASN][1000 genomes]
rs4883208	0.93[ASN][1000 genomes]
rs4883209	0.93[ASN][1000 genomes]
rs56083774	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56143043	0.96[ASN][1000 genomes]
rs56350793	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60267183	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61915986	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61916006	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136274	0.93[ASN][1000 genomes]
rs7136774	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311267	0.96[ASN][1000 genomes]
rs7311509	0.96[ASN][1000 genomes]
rs759468	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759469	0.93[ASN][1000 genomes]
rs759470	0.93[ASN][1000 genomes]
rs7957626	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9183800-9189200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:9184400-9189600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:9185600-9187200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:9185600-9189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:9185600-9189800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:9185800-9189200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:9186200-9189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:9186400-9188200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:9186400-9188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:9186600-9188800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:9186600-9188800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:9186800-9188200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:9186800-9189000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:9187000-9188800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:9187000-9188800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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