Variant report

Variant	rs592068
Chromosome Location	chr11:94186955-94186956
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	chr11:94185882..94188334-chr11:94225104..94227120,2	K562	blood:

Variant related genes	Relation type
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 23 )

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

rs_ID	r²[population]
rs11020803	0.81[CHB][hapmap]
rs12292294	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1257774	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13447646	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs499952	0.89[CEU][hapmap]
rs509744	0.85[CHB][hapmap]
rs512150	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs516381	0.80[EUR][1000 genomes]
rs521669	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs522596	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs529126	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs535801	0.81[CHB][hapmap]
rs540514	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs547289	0.80[EUR][1000 genomes]
rs552126	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs581002	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584707	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs598599	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs601341	0.90[CEU][hapmap]
rs603937	0.94[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs607146	0.85[AMR][1000 genomes]
rs607974	0.94[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs625245	0.81[CHB][hapmap]
rs640627	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs654718	0.87[CHB][hapmap]
rs663530	0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs680695	0.82[CHB][hapmap]
rs687109	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs948575	0.82[CHB][hapmap]

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	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
2	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
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers 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	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs592068	MRE11A	cis	lung	GTEx
rs592068	RP11-685N10.1	cis	Stomach	GTEx
rs592068	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs592068	RP11-685N10.1	cis	Artery Aorta	GTEx
rs592068	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs592068	RP11-685N10.1	cis	Thyroid	GTEx
rs592068	MRE11A	cis	Esophagus Mucosa	GTEx
rs592068	MRE11A	cis	Whole Blood	GTEx
rs592068	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs592068	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs592068	MRE11A	cis	Esophagus Muscularis	GTEx
rs592068	MRE11A	cis	Thyroid	GTEx
rs592068	MRE11A	cis	Adipose Subcutaneous	GTEx
rs592068	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs592068	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs592068	RP11-685N10.1	cis	lung	GTEx
rs592068	MRE11A	cis	Nerve Tibial	GTEx
rs592068	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs592068	RP11-685N10.1	cis	Artery Tibial	GTEx
rs592068	MRE11A	cis	Artery Tibial	GTEx
rs592068	MRE11A	cis	Stomach	GTEx
rs592068	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs592068	RP11-685N10.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
6	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
9	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
13	chr11:94166600-94216400	Weak transcription	Gastric	stomach
14	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
15	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
17	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:94168800-94191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
21	chr11:94170000-94192600	Weak transcription	Aorta	Aorta
22	chr11:94170000-94192800	Weak transcription	Right Ventricle	heart
23	chr11:94170000-94192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:94170000-94194200	Weak transcription	Spleen	Spleen
25	chr11:94170200-94192400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:94170400-94192200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:94172200-94190200	Weak transcription	K562	blood
28	chr11:94177800-94192600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:94178400-94192800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:94178600-94189200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:94178600-94192400	Weak transcription	HUVEC	blood vessel
33	chr11:94179000-94192600	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:94179000-94192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
36	chr11:94179200-94189800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:94179200-94199000	Weak transcription	Fetal Brain Female	brain
38	chr11:94179200-94200000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:94179400-94192400	Weak transcription	HSMM	muscle
40	chr11:94179400-94192600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:94179600-94190800	Weak transcription	Left Ventricle	heart
43	chr11:94179600-94192800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:94180400-94192600	Weak transcription	NH-A	brain
46	chr11:94180400-94192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:94180400-94199000	Weak transcription	Brain Germinal Matrix	brain
48	chr11:94180600-94189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:94180600-94189400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:94180600-94190000	Weak transcription	Rectal Mucosa Donor 29	rectum

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