Variant report

Variant	rs11169623
Chromosome Location	chr12:51332766-51332767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51325095..51327824-chr12:51330132..51332828,3	K562	blood:
2	chr12:51331181..51333310-chr12:51354155..51356249,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11169624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169631	1.00[AMR][1000 genomes]
rs11169635	1.00[AMR][1000 genomes]
rs12304470	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306822	1.00[YRI][hapmap]
rs12308376	1.00[YRI][hapmap]
rs12308794	1.00[YRI][hapmap]
rs12311435	1.00[YRI][hapmap]
rs12312876	1.00[AMR][1000 genomes]
rs12317669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320527	1.00[YRI][hapmap]
rs12321633	1.00[YRI][hapmap]
rs60895426	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300037	1.00[AMR][1000 genomes]
rs73308088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310014	1.00[AMR][1000 genomes]
rs73310022	1.00[AMR][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:34 , 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	chr12:51329600-51333200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
8	chr12:51330600-51332800	Weak transcription	Liver	Liver
9	chr12:51331000-51332800	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:51331600-51338000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
13	chr12:51331800-51333000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:51331800-51334400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:51331800-51342800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:51331800-51343000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:51331800-51353800	Weak transcription	Primary T cells from cord blood	blood
18	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:51331800-51382000	Weak transcription	Ovary	ovary
20	chr12:51332000-51346400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:51332200-51336400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:51332400-51332800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:51332400-51333600	Weak transcription	Lung	lung
24	chr12:51332400-51343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:51332400-51346200	Weak transcription	Fetal Intestine Small	intestine
26	chr12:51332400-51346200	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:51332400-51346200	Weak transcription	Fetal Stomach	stomach
28	chr12:51332600-51333000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:51332600-51333000	Weak transcription	Fetal Thymus	thymus
30	chr12:51332600-51334000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:51332600-51335400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:51332600-51346400	Weak transcription	Brain Angular Gyrus	brain
33	chr12:51332600-51354400	Weak transcription	Thymus	Thymus
34	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain

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