Variant report

Variant	rs554715
Chromosome Location	chr11:94172227-94172228
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	chr11:94170626..94172978-chr11:94174814..94177499,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10741488	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10831222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10831227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020774	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11523894	0.84[EUR][1000 genomes]
rs1257783	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2155209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508783	0.85[TSI][hapmap]
rs3758787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3824878	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4459257	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs485146	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs491404	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs492073	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs514060	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs516037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs534402	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs538800	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs541090	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546439	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs556477	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572372	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs581449	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs583534	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584531	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs592943	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs601391	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs604845	0.81[CEU][hapmap];0.90[CHB][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610611	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618690	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646130	0.92[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs657830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs661957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs554715	MRE11A	cis	cerebellum	SCAN
rs554715	GPR83	cis	cerebellum	SCAN
rs554715	CWC15	cis	parietal	SCAN
rs554715	MRE11A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
2	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
11	chr11:94157600-94182200	Weak transcription	Osteobl	bone
12	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
13	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:94161000-94183000	Strong transcription	Dnd41	blood
15	chr11:94162800-94176400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:94163000-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:94163000-94186000	Weak transcription	Fetal Brain Male	brain
20	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
21	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:94163200-94177200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:94163200-94179000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
27	chr11:94166400-94179800	Weak transcription	NHEK	skin
28	chr11:94166600-94216400	Weak transcription	Gastric	stomach
29	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
30	chr11:94167200-94176400	Weak transcription	Ovary	ovary
31	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
33	chr11:94167600-94178200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:94168000-94178200	Weak transcription	NH-A	brain
36	chr11:94168400-94175600	Weak transcription	Fetal Kidney	kidney
37	chr11:94168400-94176200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:94168400-94178200	Weak transcription	Fetal Lung	lung
39	chr11:94168600-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:94168800-94180200	Weak transcription	Thymus	Thymus
41	chr11:94168800-94191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:94169000-94177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:94169200-94175400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:94169200-94176600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:94169600-94173000	Weak transcription	Fetal Stomach	stomach
46	chr11:94169600-94176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:94169600-94178400	Weak transcription	Pancreas	Pancrea
48	chr11:94169600-94178600	Weak transcription	Fetal Intestine Small	intestine
49	chr11:94169800-94172800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:94169800-94173600	Weak transcription	Placenta	Placenta

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