Variant report

Variant	rs57449593
Chromosome Location	chr12:10529860-10529861
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	chr12:10527378..10530229-chr12:10546803..10548399,2	K562	blood:
2	chr12:10528733..10530247-chr12:10762165..10764402,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11834973	0.93[AFR][1000 genomes]
rs11836503	0.87[AFR][1000 genomes]
rs2061754	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2061755	0.86[AMR][1000 genomes]
rs55670136	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56056709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57563883	0.87[AFR][1000 genomes]
rs58737658	0.93[AFR][1000 genomes]
rs58837727	0.86[AMR][1000 genomes]
rs60077215	0.93[AFR][1000 genomes]
rs60106440	0.87[AFR][1000 genomes]
rs73256293	0.87[AFR][1000 genomes]
rs7954052	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
6	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
9	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10518400-10537000	Weak transcription	Left Ventricle	heart
2	chr12:10519600-10534800	Weak transcription	Fetal Stomach	stomach
3	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:10521200-10531000	Weak transcription	Placenta	Placenta
5	chr12:10521800-10534600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:10522400-10530200	Weak transcription	Fetal Thymus	thymus
7	chr12:10522400-10534000	Weak transcription	Thymus	Thymus
8	chr12:10523000-10536000	Weak transcription	Ovary	ovary
9	chr12:10523600-10532000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:10525400-10531200	Weak transcription	HMEC	breast
11	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:10525600-10531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:10525600-10533200	Weak transcription	Fetal Intestine Large	intestine
14	chr12:10525600-10534600	Weak transcription	Pancreas	Pancrea
15	chr12:10525800-10531000	Strong transcription	Hela-S3	cervix
16	chr12:10525800-10531200	Weak transcription	NHEK	skin
17	chr12:10525800-10534400	Weak transcription	Spleen	Spleen
18	chr12:10526800-10530200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:10527200-10534400	Weak transcription	Brain Substantia Nigra	brain
20	chr12:10527400-10533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:10527400-10533000	Weak transcription	Primary T cells from cord blood	blood
22	chr12:10527400-10533200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:10527400-10534400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:10527600-10538600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:10528400-10530600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:10528600-10533000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:10528800-10533000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:10528800-10533000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:10529000-10530000	Weak transcription	Primary B cells from cord blood	blood
30	chr12:10529600-10531000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:10529800-10530200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:10529800-10531200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:10529800-10531400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:10529800-10533000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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