Variant report

Variant	rs11126381
Chromosome Location	chr2:73014472-73014473
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73013944..73016262-chr2:73016329..73018637,2	MCF-7	breast:
2	chr2:73005561..73008287-chr2:73013909..73016278,2	MCF-7	breast:
3	chr2:73009983..73011602-chr2:73014028..73016616,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10496187	0.91[ASN][1000 genomes]
rs11126382	0.91[ASN][1000 genomes]
rs11126384	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11686536	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11693376	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12476137	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12479094	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12619565	0.91[ASN][1000 genomes]
rs12994646	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13008515	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1396107	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1508060	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1532970	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1876489	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1876490	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2135982	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2420882	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35666345	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4852891	0.86[AFR][1000 genomes]
rs58890506	0.91[ASN][1000 genomes]
rs6546787	0.83[EUR][1000 genomes]
rs6716335	0.91[ASN][1000 genomes]
rs6727086	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6744758	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6758539	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6758802	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6761253	0.91[ASN][1000 genomes]
rs7583914	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7593084	0.88[ASN][1000 genomes]
rs7600718	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7607226	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72985200-73015800	Weak transcription	Ovary	ovary
2	chr2:72989400-73015800	Weak transcription	Placenta	Placenta
3	chr2:72990800-73018400	Weak transcription	Aorta	Aorta
4	chr2:72991200-73015800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:72991200-73015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:72991200-73023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:72999800-73022000	Weak transcription	Right Ventricle	heart
8	chr2:73005400-73016200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:73005800-73015800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:73005800-73016200	Weak transcription	HSMM	muscle
11	chr2:73008000-73016000	Weak transcription	HMEC	breast
12	chr2:73008600-73015600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:73008600-73020600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:73008800-73015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:73008800-73016200	Weak transcription	Brain Angular Gyrus	brain
16	chr2:73008800-73016200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:73009200-73021000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:73010200-73021000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:73010400-73020400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:73011400-73015600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:73011600-73015400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:73011800-73020800	Weak transcription	Fetal Lung	lung
23	chr2:73011800-73021200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:73013000-73015800	Weak transcription	Left Ventricle	heart
25	chr2:73013000-73016000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:73013200-73020400	Weak transcription	Fetal Stomach	stomach
27	chr2:73013400-73015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:73013600-73015800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:73014000-73016000	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:73014000-73020800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:73014000-73033400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:73014200-73014800	Weak transcription	Brain Substantia Nigra	brain
33	chr2:73014200-73014800	Weak transcription	Lung	lung
34	chr2:73014200-73016000	Weak transcription	Fetal Heart	heart
35	chr2:73014200-73016200	Weak transcription	Stomach Mucosa	stomach

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