Variant report

Variant	rs2293810
Chromosome Location	chr12:40016168-40016169
allele	C/T
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	YY1	chr12:40016167-40016504	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:40016082-40016468	GM12891	blood:	n/a	n/a
3	YY1	chr12:40016092-40016481	GM12878	blood:	n/a	n/a
4	YY1	chr12:40016144-40016491	GM12892	blood:	n/a	n/a
5	YY1	chr12:40016124-40016537	GM12878	blood:	n/a	n/a
6	EBF1	chr12:40016142-40016539	GM12878	blood:	n/a	n/a
7	TBP	chr12:40012430-40016676	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:40015362..40017426-chr12:40020461..40022505,2	MCF-7	breast:
2	chr12:40014171..40017168-chr12:40017549..40021409,3	K562	blood:
3	chr12:40010562..40012556-chr12:40014262..40016328,2	K562	blood:

Variant related genes	Relation type
ABCD2	TF binding region
C12orf40	TF binding region
ENSG00000180116	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12423205	0.92[ASN][1000 genomes]
rs12424277	0.92[ASN][1000 genomes]
rs12426490	0.92[ASN][1000 genomes]
rs17127131	1.00[JPT][hapmap]
rs59134943	0.92[ASN][1000 genomes]
rs73096553	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73096560	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73096561	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73096583	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7968185	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469359	chr12:39946354-40034699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv558591	chr12:39946354-40034699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv469361	chr12:39946354-40042220	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558592	chr12:39946354-40042220	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899014	chr12:39946354-40068896	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv899017	chr12:39949147-40081619	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv899020	chr12:39985206-40040331	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv899021	chr12:39989172-40053423	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv899022	chr12:40014427-40111761	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40014200-40018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:40014800-40016800	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:40014800-40017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:40015200-40016200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:40015200-40017400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:40015200-40019800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:40015200-40020200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:40015400-40016800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:40015400-40016800	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:40015400-40017400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:40015400-40018000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:40015400-40018800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:40015400-40018800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:40015400-40019200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:40015600-40016200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:40015600-40016800	Enhancers	Primary T cells from cord blood	blood
17	chr12:40015600-40017000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:40015600-40019000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:40016000-40016200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:40016000-40016200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr12:40016000-40016600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr12:40016000-40016600	Enhancers	K562	blood
23	chr12:40016000-40016800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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