Variant report

Variant	rs11896815
Chromosome Location	chr2:54285149-54285150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54283618..54286059-chr2:54287821..54290236,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10084374	0.83[ASN][1000 genomes]
rs10181999	0.85[ASN][1000 genomes]
rs10183655	0.85[CHB][hapmap]
rs10496028	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11674724	0.81[ASN][1000 genomes]
rs11676462	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683654	0.83[CEU][hapmap]
rs11890838	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11893270	0.86[ASN][1000 genomes]
rs11898855	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17039547	0.91[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17045452	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs17045474	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17045488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877908	0.80[CHB][hapmap]
rs2112122	0.81[ASN][1000 genomes]
rs2287643	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2357896	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2909459	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs34498089	0.86[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34773403	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3731967	0.85[CHB][hapmap]
rs4671746	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4671861	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55649409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55692047	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55705819	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55930424	0.84[AFR][1000 genomes]
rs56193146	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56302494	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62137964	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62137976	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62137980	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62139336	0.82[AMR][1000 genomes]
rs62140990	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62141002	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545377	0.80[ASN][1000 genomes]
rs6545381	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545386	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6711105	0.84[ASN][1000 genomes]
rs6711217	0.81[ASN][1000 genomes]
rs6713088	0.86[CHB][hapmap]
rs6714450	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6721970	0.86[CEU][hapmap];0.81[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6743455	0.85[ASN][1000 genomes]
rs6746965	0.86[CHB][hapmap]
rs6748976	0.82[ASN][1000 genomes]
rs6748997	0.80[ASN][1000 genomes]
rs6751105	0.85[CHB][hapmap]
rs698855	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs72799298	0.82[ASN][1000 genomes]
rs7559384	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7565453	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7573551	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7576901	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7590819	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805310	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs805316	0.91[YRI][hapmap]
rs805321	0.91[CHB][hapmap]
rs805328	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs805338	1.00[YRI][hapmap]
rs805351	0.91[CHB][hapmap]
rs805352	0.90[CHB][hapmap]
rs805365	0.90[CHB][hapmap]
rs805386	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs805399	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs805401	0.90[CHB][hapmap]
rs805404	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs805408	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs805426	0.90[CHB][hapmap]
rs805446	1.00[YRI][hapmap]
rs805449	1.00[YRI][hapmap]
rs9631059	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11896815	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54248600-54289800	Weak transcription	Fetal Lung	lung
2	chr2:54268400-54286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:54268400-54290800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:54271400-54286800	Weak transcription	HSMMtube	muscle
5	chr2:54272000-54286600	Weak transcription	HSMM	muscle
6	chr2:54272600-54286600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:54272600-54286800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:54273000-54292400	Weak transcription	Fetal Brain Female	brain
9	chr2:54276800-54286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:54277200-54290800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:54278800-54302400	Weak transcription	Left Ventricle	heart
12	chr2:54280000-54292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:54280200-54286600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:54280800-54286400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:54280800-54286800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:54280800-54291400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:54280800-54310000	Weak transcription	Ovary	ovary
18	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
19	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
21	chr2:54281000-54291200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:54281200-54286600	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:54281200-54292400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:54281600-54286600	Weak transcription	Primary T cells from cord blood	blood
25	chr2:54281600-54289400	Weak transcription	Primary B cells from cord blood	blood
26	chr2:54281600-54308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:54281800-54286600	Weak transcription	Osteobl	bone
28	chr2:54282000-54286800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:54282000-54288400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:54282000-54291200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:54282200-54293800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:54283000-54290000	Weak transcription	Brain Anterior Caudate	brain
33	chr2:54283400-54291200	Weak transcription	Pancreas	Pancrea
34	chr2:54283400-54292400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:54283600-54290600	Weak transcription	Stomach Mucosa	stomach
36	chr2:54284600-54285200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:54284600-54286600	Weak transcription	NHEK	skin
38	chr2:54284800-54285200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr2:54285000-54286400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:54285000-54291000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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