Variant report

Variant	rs10840639
Chromosome Location	chr12:122446769-122446770
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122444926..122447764-chr12:122458397..122461144,2	K562	blood:
2	chr12:122445617..122452949-chr12:122456112..122461928,13	MCF-7	breast:
3	chr12:122445744..122449221-chr12:122451078..122453446,3	K562	blood:
4	chr12:122440790..122443569-chr12:122445704..122448468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255856	Chromatin interaction
ENSG00000110987	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10840640	0.96[ASN][1000 genomes]
rs10840641	0.88[ASN][1000 genomes]
rs11043249	0.84[ASN][1000 genomes]
rs11043252	0.82[ASN][1000 genomes]
rs11043253	0.84[ASN][1000 genomes]
rs11043254	0.84[ASN][1000 genomes]
rs11043281	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11043287	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12231594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177330	0.93[ASN][1000 genomes]
rs3741582	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58504997	0.84[ASN][1000 genomes]
rs59325626	0.84[ASN][1000 genomes]
rs6486785	0.84[ASN][1000 genomes]
rs7294458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969138	0.89[ASN][1000 genomes]
rs830127	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442000-122446800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
3	chr12:122443000-122449000	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:122443400-122446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:122443400-122446800	Weak transcription	NHEK	skin
7	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
8	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
9	chr12:122443600-122446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:122443600-122448400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:122444200-122446800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:122444600-122446800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:122444800-122447200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:122444800-122449200	Enhancers	Fetal Thymus	thymus
16	chr12:122445000-122447800	Enhancers	Thymus	Thymus
17	chr12:122445000-122448600	Enhancers	Primary B cells from cord blood	blood
18	chr12:122445600-122447000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:122445600-122447000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122446000-122446800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:122446000-122447400	Enhancers	Adipose Nuclei	Adipose
22	chr12:122446000-122451400	Weak transcription	Dnd41	blood
23	chr12:122446600-122446800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:122446600-122447400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:122446600-122447400	Enhancers	HSMMtube	muscle
26	chr12:122446600-122448200	Enhancers	GM12878-XiMat	blood

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