Variant report

Variant	rs610611
Chromosome Location	chr11:94203868-94203869
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94202180..94204828-chr11:94212256..94213888,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10741488	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10831222	0.81[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10831227	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020774	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11523894	0.83[EUR][1000 genomes]
rs1257783	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155209	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2508783	0.83[MEX][hapmap];0.85[TSI][hapmap]
rs3758787	0.91[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824878	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4459257	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476137	0.80[MKK][hapmap]
rs485146	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs489333	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs491404	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492073	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs496190	0.84[LWK][hapmap];0.86[MKK][hapmap]
rs514060	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs516037	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs534402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538800	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs541090	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs546439	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs554715	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]
rs556477	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs557148	0.84[LWK][hapmap];0.86[MKK][hapmap]
rs560190	0.83[AMR][1000 genomes]
rs563882	0.83[AMR][1000 genomes]
rs572372	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs581449	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs583534	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs584531	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs592943	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601391	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604845	0.81[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618690	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs646130	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs657830	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs661957	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs610611	MRE11A	cis	parietal	SCAN
rs610611	GPR83	cis	cerebellum	SCAN
rs610611	MRE11A	cis	cerebellum	SCAN
rs610611	CWC15	cis	parietal	SCAN

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	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
5	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
10	chr11:94166600-94216400	Weak transcription	Gastric	stomach
11	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
13	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
17	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
20	chr11:94180800-94212600	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:94180800-94215800	Weak transcription	Lung	lung
22	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
23	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
24	chr11:94183000-94205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:94183200-94222200	Weak transcription	HMEC	breast
26	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:94183600-94225800	Weak transcription	NHLF	lung
28	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
29	chr11:94192800-94205400	Weak transcription	HUVEC	blood vessel
30	chr11:94193400-94210800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:94193800-94214400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:94194000-94217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:94194400-94213800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:94194600-94205600	Weak transcription	NH-A	brain
35	chr11:94194600-94206000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:94194600-94206200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:94194600-94206200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:94194600-94206200	Weak transcription	HSMMtube	muscle
39	chr11:94194600-94216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:94194600-94221200	Weak transcription	Right Ventricle	heart
41	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
43	chr11:94195200-94206200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:94195200-94215800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:94195800-94206400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:94197200-94204400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:94197200-94204800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:94197200-94204800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:94197200-94205200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:94197200-94205400	Strong transcription	Monocytes-CD14+_RO01746	blood

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