Variant report

Variant	rs10831225
Chromosome Location	chr11:94146177-94146178
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94144560..94146468-chr11:94146702..94148418,2	MCF-7	breast:
2	chr11:94143610..94146567-chr11:94146624..94148573,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap]
rs11020802	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11020803	1.00[CEU][hapmap];0.83[CHD][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12224966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1257769	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1272743	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3017077	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs473297	0.81[CEU][hapmap]
rs474577	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs497763	0.84[CEU][hapmap]
rs509723	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs509744	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs512150	0.85[CEU][hapmap]
rs518640	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs521349	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs525057	0.80[CEU][hapmap]
rs525921	0.80[CEU][hapmap]
rs530569	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs535801	0.86[CHD][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs540199	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs550255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs552126	0.80[CEU][hapmap]
rs56108804	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs563807	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs584707	0.80[CEU][hapmap]
rs588701	1.00[CEU][hapmap];0.86[CHD][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59678918	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs625245	1.00[CEU][hapmap];0.86[CHD][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs639311	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs641936	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6483341	0.81[CEU][hapmap]
rs654718	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs657249	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs680695	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs684507	0.81[CEU][hapmap]
rs693815	0.81[CEU][hapmap]
rs695093	0.80[CEU][hapmap]
rs948575	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][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	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs10831225	MRE11A	cis	Whole Blood	GTEx
rs10831225	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs10831225	RP11-685N10.1	cis	Stomach	GTEx
rs10831225	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs10831225	MRE11A	cis	Adipose Subcutaneous	GTEx
rs10831225	MRE11A	cis	Artery Aorta	GTEx
rs10831225	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs10831225	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs10831225	MRE11A	cis	Artery Tibial	GTEx
rs10831225	RP11-685N10.1	cis	Thyroid	GTEx
rs10831225	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs10831225	MRE11A	cis	Heart Left Ventricle	GTEx
rs10831225	MRE11A	cis	Esophagus Mucosa	GTEx
rs10831225	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs10831225	MRE11A	cis	Thyroid	GTEx
rs10831225	MRE11A	cis	Stomach	GTEx
rs10831225	MRE11A	cis	Esophagus Muscularis	GTEx
rs10831225	RP11-685N10.1	cis	Artery Aorta	GTEx
rs10831225	RP11-685N10.1	cis	Artery Tibial	GTEx
rs10831225	MRE11A	cis	lung	GTEx
rs10831225	MRE11A	cis	Nerve Tibial	GTEx
rs10831225	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs10831225	RP11-685N10.1	cis	lung	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94135200-94161400	Weak transcription	Placenta	Placenta
2	chr11:94135200-94162200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:94138600-94162200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:94141200-94155000	Weak transcription	Primary T cells from cord blood	blood
5	chr11:94141800-94156600	Weak transcription	Spleen	Spleen
6	chr11:94142000-94154800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:94142400-94161200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:94142600-94154800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:94142800-94152200	Weak transcription	Liver	Liver
10	chr11:94142800-94156000	Weak transcription	Thymus	Thymus
11	chr11:94143000-94150400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:94143200-94156400	Weak transcription	Fetal Stomach	stomach
13	chr11:94143400-94156400	Weak transcription	Gastric	stomach
14	chr11:94143600-94147400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:94143600-94154800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:94143600-94156400	Weak transcription	Lung	lung
17	chr11:94143800-94148600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:94143800-94151600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:94143800-94156200	Weak transcription	Fetal Intestine Small	intestine
20	chr11:94143800-94156400	Weak transcription	Ovary	ovary
21	chr11:94144000-94147400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
23	chr11:94144400-94153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:94145000-94156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:94145200-94152800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:94145400-94154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:94145600-94147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:94145800-94146600	Strong transcription	Dnd41	blood

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