Variant report

Variant	rs227069
Chromosome Location	chr11:108210258-108210259
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	chr11:108204132..108207758-chr11:108208182..108211909,4	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10431060	0.87[ASN][1000 genomes]
rs10431061	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10749918	0.95[CEU][hapmap]
rs10789659	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10890834	0.90[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs11212538	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs11212546	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs11212551	0.91[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs11212610	0.87[ASN][1000 genomes]
rs11212617	0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[MKK][hapmap];0.88[YRI][hapmap]
rs11212619	0.86[ASN][1000 genomes]
rs11212636	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212637	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212638	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212666	1.00[CEU][hapmap]
rs11212676	0.91[CEU][hapmap];0.83[MEX][hapmap]
rs113995	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs11605442	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs12223381	1.00[CEU][hapmap]
rs12226046	0.91[JPT][hapmap]
rs12787445	0.86[CHB][hapmap]
rs1583598	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs1607476	0.86[CHB][hapmap]
rs170548	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs172894	0.91[CHB][hapmap]
rs172895	0.81[ASN][1000 genomes]
rs172896	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs172927	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs179109	0.83[ASN][1000 genomes]
rs179110	0.91[JPT][hapmap]
rs183459	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs183460	0.91[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap]
rs1850730	0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs186591	0.82[ASN][1000 genomes]
rs186592	0.83[ASN][1000 genomes]
rs186593	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs186595	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs2056267	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs2070661	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs2083707	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2118308	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227040	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs227041	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs227053	0.95[ASN][1000 genomes]
rs227055	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs227058	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs227060	0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs227061	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs227062	0.90[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs227063	0.86[ASN][1000 genomes]
rs227064	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs227066	0.84[ASN][1000 genomes]
rs227067	0.84[ASN][1000 genomes]
rs227068	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs227070	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs227072	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs227073	0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.81[MKK][hapmap];0.88[ASN][1000 genomes]
rs227074	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs227075	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs227076	0.88[ASN][1000 genomes]
rs227077	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs227085	0.81[ASN][1000 genomes]
rs227086	0.85[ASN][1000 genomes]
rs227087	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs227088	0.85[ASN][1000 genomes]
rs227091	0.84[ASN][1000 genomes]
rs227092	0.90[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs227093	0.92[ASN][1000 genomes]
rs227094	0.85[ASN][1000 genomes]
rs228589	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs228590	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap]
rs228591	0.95[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap]
rs228592	0.90[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs228595	0.82[AMR][1000 genomes]
rs228599	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs228606	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs2356801	0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap]
rs373759	0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs374443	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3765632	0.80[CHD][hapmap]
rs3781868	0.91[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs3824987	1.00[CEU][hapmap];0.93[CHD][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs419716	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs425061	0.88[ASN][1000 genomes]
rs425538	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4585	0.86[CHB][hapmap];0.89[CHD][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs4623864	0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap]
rs4753833	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs4753842	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754305	0.91[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap]
rs4754322	0.84[ASN][1000 genomes]
rs5023001	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs573890	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs592955	0.81[CHB][hapmap]
rs595747	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs597788	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs599164	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs599406	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs599558	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs600931	0.90[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs605394	0.82[ASN][1000 genomes]
rs60639858	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60683001	0.83[ASN][1000 genomes]
rs609261	0.81[CHB][hapmap]
rs609429	0.85[ASN][1000 genomes]
rs609557	0.91[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap]
rs609655	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs611646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61915104	0.81[ASN][1000 genomes]
rs619972	0.81[CHB][hapmap];0.89[CHD][hapmap];0.83[MKK][hapmap]
rs620613	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs623860	0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs624366	0.81[CHB][hapmap]
rs627418	0.91[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs641605	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs645485	0.81[CHB][hapmap]
rs650128	0.84[ASN][1000 genomes]
rs651030	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs652311	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs652541	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs654005	0.81[CHB][hapmap]
rs6589007	0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs6589018	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6589019	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs662218	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs662578	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs664143	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs664982	0.88[ASN][1000 genomes]
rs672655	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.93[MKK][hapmap];0.88[YRI][hapmap]
rs673281	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs676729	0.86[ASN][1000 genomes]
rs694376	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7118967	0.86[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs7931930	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[MKK][hapmap];0.88[YRI][hapmap];0.87[ASN][1000 genomes]
rs7942014	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7943063	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs7943203	1.00[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs893279	0.91[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs9667658	0.81[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv1821877	chr11:108158134-108219339	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs227069	ACAT1	cis	cerebellum	SCAN
rs227069	NPAT	cis	cerebellum	SCAN
rs227069	AVIL	trans	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108137800-108212000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:108147200-108210800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
6	chr11:108148600-108225600	Weak transcription	Gastric	stomach
7	chr11:108149400-108211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:108160200-108212600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:108160400-108211000	Strong transcription	Primary B cells from cord blood	blood
10	chr11:108161200-108210400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
12	chr11:108182400-108220800	Weak transcription	Aorta	Aorta
13	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
14	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
15	chr11:108187200-108211200	Weak transcription	K562	blood
16	chr11:108192000-108222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:108192200-108225400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:108193800-108224600	Weak transcription	Fetal Heart	heart
19	chr11:108195400-108226200	Strong transcription	Primary T cells from cord blood	blood
20	chr11:108196000-108210800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:108200400-108215000	Weak transcription	Thymus	Thymus
22	chr11:108200400-108224600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:108200600-108222000	Weak transcription	Spleen	Spleen
24	chr11:108200600-108222200	Weak transcription	Fetal Intestine Small	intestine
25	chr11:108201400-108219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:108201400-108221200	Weak transcription	Fetal Brain Male	brain
27	chr11:108202200-108225200	Weak transcription	Colonic Mucosa	Colon
28	chr11:108202800-108221200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:108203000-108222000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:108203200-108224400	Weak transcription	Psoas Muscle	Psoas
31	chr11:108205000-108210600	Strong transcription	Fetal Thymus	thymus
32	chr11:108206400-108211200	Weak transcription	NHEK	skin
33	chr11:108206400-108212000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:108206600-108211200	Weak transcription	HMEC	breast
35	chr11:108207000-108211400	Weak transcription	Fetal Intestine Large	intestine
36	chr11:108207000-108220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:108207000-108221800	Weak transcription	Lung	lung
38	chr11:108207000-108224400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:108207000-108225400	Weak transcription	Fetal Kidney	kidney
40	chr11:108207200-108218000	Weak transcription	HepG2	liver
41	chr11:108207400-108224400	Weak transcription	Fetal Brain Female	brain
42	chr11:108207400-108234000	Weak transcription	NHLF	lung
43	chr11:108207600-108217200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:108207600-108219600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:108207600-108222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:108207600-108222200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:108207600-108222200	Weak transcription	NH-A	brain
48	chr11:108207600-108222400	Weak transcription	Brain Substantia Nigra	brain
49	chr11:108207800-108211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:108207800-108213600	Weak transcription	Ovary	ovary

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