Variant report

Variant	rs521669
Chromosome Location	chr11:94157301-94157302
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	chr11:94151626..94153419-chr11:94155927..94158311,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11020767	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11020803	0.94[YRI][hapmap]
rs12292294	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1257774	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13447646	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3017077	0.83[CHB][hapmap];0.81[YRI][hapmap]
rs509744	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs512150	0.89[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs516381	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs522596	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529126	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs530569	0.83[CHB][hapmap];0.81[YRI][hapmap]
rs535801	0.84[YRI][hapmap]
rs540514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547289	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs552126	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584707	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588701	0.82[CHB][hapmap]
rs592068	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs598599	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603937	0.80[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607146	0.85[AMR][1000 genomes]
rs607974	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640627	0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs663530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680695	0.84[YRI][hapmap]
rs687109	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110046	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:20)

SNP	Gene	Cis/trans	Tissue	Source
rs521669	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs521669	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs521669	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs521669	MRE11A	cis	Thyroid	GTEx
rs521669	MRE11A	cis	lung	GTEx
rs521669	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs521669	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs521669	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs521669	MRE11A	cis	Stomach	GTEx
rs521669	MRE11A	cis	Artery Tibial	GTEx
rs521669	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs521669	RP11-685N10.1	cis	Artery Tibial	GTEx
rs521669	MRE11A	cis	Nerve Tibial	GTEx
rs521669	MRE11A	cis	Esophagus Muscularis	GTEx
rs521669	MRE11A	cis	Adipose Subcutaneous	GTEx
rs521669	MRE11A	cis	Esophagus Mucosa	GTEx
rs521669	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs521669	RP11-685N10.1	cis	lung	GTEx
rs521669	RP11-685N10.1	cis	Thyroid	GTEx
rs521669	RP11-685N10.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

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	chr11:94142400-94161200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
6	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:94146400-94161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:94146800-94160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:94146800-94161400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:94147200-94162200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:94147400-94161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:94147600-94161000	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:94147600-94162000	Weak transcription	HepG2	liver
15	chr11:94147800-94161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:94149000-94166600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:94149200-94161000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:94149600-94161600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:94150000-94161000	Weak transcription	Fetal Brain Male	brain
21	chr11:94150200-94162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:94150200-94167200	Weak transcription	NH-A	brain
23	chr11:94150600-94161600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:94151200-94161000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
27	chr11:94151800-94168400	Weak transcription	Pancreas	Pancrea
28	chr11:94152200-94158800	Strong transcription	Liver	Liver
29	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:94152400-94162400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:94153000-94161400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:94153000-94167000	Weak transcription	K562	blood
33	chr11:94153200-94161200	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:94153400-94159000	Weak transcription	A549	lung
36	chr11:94153400-94161400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:94153600-94160400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:94154400-94157600	Strong transcription	GM12878-XiMat	blood
39	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:94154600-94157400	Strong transcription	Hela-S3	cervix
41	chr11:94154600-94158200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:94154600-94158600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:94154600-94159200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:94154800-94157600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:94154800-94158400	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:94154800-94159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:94154800-94159000	Strong transcription	Fetal Thymus	thymus
48	chr11:94154800-94159400	Strong transcription	Dnd41	blood
49	chr11:94154800-94160000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr11:94154800-94163000	Strong transcription	Primary T cells fromperipheralblood	blood

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