Variant report

Variant	rs1260155
Chromosome Location	chr12:32173680-32173681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32173013..32175537-chr12:32177292..32179791,2	K562	blood:
2	chr12:32173443..32176016-chr12:32188514..32190413,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11609494	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12227621	0.92[ASN][1000 genomes]
rs12227639	0.92[ASN][1000 genomes]
rs12296345	0.82[ASN][1000 genomes]
rs12309676	0.85[ASN][1000 genomes]
rs1260163	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1260165	0.84[EUR][1000 genomes]
rs1260166	0.92[ASN][1000 genomes]
rs1272284	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1684125	0.92[ASN][1000 genomes]
rs1684126	0.92[ASN][1000 genomes]
rs1798258	0.92[ASN][1000 genomes]
rs1798576	0.92[ASN][1000 genomes]
rs1798589	0.92[ASN][1000 genomes]
rs1798591	0.92[ASN][1000 genomes]
rs1798600	0.85[ASN][1000 genomes]
rs2243419	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2388966	0.92[ASN][1000 genomes]
rs2388967	0.92[ASN][1000 genomes]
rs2594033	0.89[ASN][1000 genomes]
rs2630564	0.85[ASN][1000 genomes]
rs2630588	0.92[ASN][1000 genomes]
rs2630592	0.92[ASN][1000 genomes]
rs2652001	0.96[ASN][1000 genomes]
rs2668285	0.92[ASN][1000 genomes]
rs2683501	0.92[ASN][1000 genomes]
rs2942082	0.92[ASN][1000 genomes]
rs4442627	0.85[ASN][1000 genomes]
rs59062440	0.92[ASN][1000 genomes]
rs61926350	0.92[ASN][1000 genomes]
rs61926352	0.92[ASN][1000 genomes]
rs61926353	0.92[ASN][1000 genomes]
rs7303247	0.92[ASN][1000 genomes]
rs7485882	0.92[ASN][1000 genomes]
rs901331	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901332	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901333	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking 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	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32154400-32177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:32154400-32178400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:32154800-32178000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:32154800-32179400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:32156200-32177800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:32156200-32179000	Weak transcription	Primary B cells from cord blood	blood
7	chr12:32166000-32186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:32166400-32184200	Weak transcription	Ovary	ovary
9	chr12:32167600-32173800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:32168200-32177800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:32168600-32178000	Weak transcription	Thymus	Thymus
12	chr12:32171200-32176600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:32171800-32181000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:32173200-32174000	Flanking Active TSS	K562	blood
15	chr12:32173200-32178000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:32173400-32174000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:32173400-32174000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:32173400-32174400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:32173400-32174400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:32173400-32174400	Enhancers	Dnd41	blood
21	chr12:32173400-32174600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:32173600-32174000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:32173600-32174000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:32173600-32174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:32173600-32176600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:32173600-32176600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:32173600-32178000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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