Variant report

Variant	rs1982777
Chromosome Location	chr12:51335917-51335918
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51329075..51331156-chr12:51335515..51338529,3	MCF-7	breast:
2	chr12:51325288..51327339-chr12:51334095..51336282,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10876122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169629	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169634	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169640	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169643	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169651	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169653	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169658	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169662	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169674	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169675	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12227734	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2016533	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2239860	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2269682	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2269683	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3809320	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768871	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295893	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
3	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
4	chr12:51329200-51336200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:51329200-51341600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
7	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:51331600-51338000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
10	chr12:51331800-51342800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:51331800-51343000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:51331800-51353800	Weak transcription	Primary T cells from cord blood	blood
13	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:51331800-51382000	Weak transcription	Ovary	ovary
15	chr12:51332000-51346400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:51332200-51336400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:51332400-51343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:51332400-51346200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:51332400-51346200	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:51332400-51346200	Weak transcription	Fetal Stomach	stomach
21	chr12:51332600-51346400	Weak transcription	Brain Angular Gyrus	brain
22	chr12:51332600-51354400	Weak transcription	Thymus	Thymus
23	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain
24	chr12:51332800-51336000	Weak transcription	Primary B cells from cord blood	blood
25	chr12:51335400-51337000	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:51335800-51336600	Enhancers	Primary monocytes fromperipheralblood	blood

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