Variant report

Variant	rs2272076
Chromosome Location	chr12:121641488-121641489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121639319..121642998-chr12:121646427..121652052,9	MCF-7	breast:
2	chr12:121638895..121643738-chr12:121644037..121648634,7	K562	blood:
3	chr12:121633584..121637006-chr12:121640952..121642705,3	K562	blood:
4	chr12:121613491..121614418-chr12:121640538..121641644,9	MCF-7	breast:
5	chr12:121627659..121629279-chr12:121641297..121643728,2	K562	blood:
6	chr12:121638895..121644396-chr12:121646510..121649736,6	K562	blood:
7	chr12:121638580..121643612-chr12:121646421..121651534,9	MCF-7	breast:
8	chr12:121634221..121637382-chr12:121639150..121642465,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11065481	0.88[ASN][1000 genomes]
rs1169721	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1653586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653592	0.88[EUR][1000 genomes]
rs1653593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs1718156	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1718158	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2071273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2252298	0.88[EUR][1000 genomes]
rs2252304	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2288691	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs25642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2567982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2668239	0.88[EUR][1000 genomes]
rs2668246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs2686339	0.88[EUR][1000 genomes]
rs2686372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28969487	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3751145	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3763975	0.94[ASN][1000 genomes]
rs3815990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57379013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57419819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57983015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59037892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60714133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60979871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:121628000-121647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121630400-121647200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:121637200-121642800	Weak transcription	HUVEC	blood vessel
6	chr12:121639600-121641600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:121640400-121641600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:121640400-121641600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:121641000-121641600	Enhancers	K562	blood
10	chr12:121641000-121647000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:121641400-121642600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:121641400-121642600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:121641400-121642600	Weak transcription	Fetal Heart	heart
14	chr12:121641400-121644600	Weak transcription	Placenta	Placenta
15	chr12:121641400-121646800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:121641400-121647800	Weak transcription	Gastric	stomach

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