Variant report

Variant	rs12255247
Chromosome Location	chr10:43456568-43456569
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43450142..43452389-chr10:43455226..43458611,3	K562	blood:
2	chr10:43454488..43457151-chr10:43458866..43460532,2	K562	blood:
3	chr10:43454969..43457476-chr10:43464603..43467508,2	MCF-7	breast:
4	chr10:43450805..43453524-chr10:43455350..43458252,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11239833	1.00[ASN][1000 genomes]
rs12255243	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259526	1.00[ASN][1000 genomes]
rs17431892	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891449	1.00[ASN][1000 genomes]
rs2066394	1.00[ASN][1000 genomes]
rs3128734	1.00[ASN][1000 genomes]
rs56112407	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069348	1.00[ASN][1000 genomes]
rs7896997	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880255	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv1054655	chr10:43450288-43479935	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1041825	chr10:43450288-43487986	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv895077	chr10:43452436-43506861	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
13	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1047289	chr10:43454528-43487986	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43453400-43459200	Enhancers	Fetal Muscle Leg	muscle
2	chr10:43454800-43458600	Enhancers	Spleen	Spleen
3	chr10:43454800-43458800	Enhancers	Fetal Muscle Trunk	muscle
4	chr10:43455200-43457600	Enhancers	HMEC	breast
5	chr10:43455400-43456600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:43455400-43457400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:43455400-43457600	Enhancers	NHEK	skin
8	chr10:43455600-43456800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:43455600-43458000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:43455800-43456600	Enhancers	HSMMtube	muscle
11	chr10:43455800-43457000	Enhancers	HSMM	muscle
12	chr10:43455800-43458000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:43455800-43458400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:43455800-43458400	Enhancers	Placenta	Placenta
15	chr10:43455800-43458600	Enhancers	Left Ventricle	heart
16	chr10:43455800-43458600	Enhancers	Psoas Muscle	Psoas
17	chr10:43455800-43458600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr10:43455800-43460200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:43456000-43458200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:43456000-43458600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:43456000-43458600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr10:43456200-43456600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr10:43456200-43457800	Enhancers	Right Atrium	heart
24	chr10:43456200-43458400	Enhancers	Right Ventricle	heart
25	chr10:43456400-43456600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr10:43456400-43457000	Enhancers	Pancreas	Pancrea
27	chr10:43456400-43457400	Enhancers	Fetal Stomach	stomach
28	chr10:43456400-43457600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:43456400-43459400	Enhancers	Adipose Nuclei	Adipose

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