Variant report

Variant	rs518611
Chromosome Location	chr11:75160575-75160576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75153115..75155939-chr11:75160007..75164426,4	MCF-7	breast:
2	chr11:75108774..75112522-chr11:75157873..75162369,8	K562	blood:
3	chr11:75109278..75112345-chr11:75158089..75162369,4	K562	blood:

Variant related genes	Relation type
ENSG00000206941	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10751243	0.84[EUR][1000 genomes]
rs12421913	0.85[JPT][hapmap]
rs1557474	1.00[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1623440	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1631865	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1790145	1.00[CHB][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1790149	1.00[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790153	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790154	0.86[CHB][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs1790155	1.00[CHB][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790156	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790158	1.00[CHB][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1790160	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1793411	0.92[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1793412	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1793415	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894213	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814715	0.85[JPT][hapmap]
rs471857	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473462	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474056	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs482458	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482503	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486326	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs488305	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492309	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs504685	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511190	0.87[GIH][hapmap]
rs523617	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs532454	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs535520	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535523	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546632	0.84[EUR][1000 genomes]
rs547844	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550957	0.84[EUR][1000 genomes]
rs578840	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs609793	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs611449	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs623338	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs625938	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs653673	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs668727	0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs518611	ARAP1	cis	cerebellum	SCAN
rs518611	GDPD5	cis	multi-tissue	Pritchard
rs518611	AQP11	cis	parietal	SCAN
rs518611	P2RY2	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75141800-75165400	Weak transcription	Right Atrium	heart
2	chr11:75142000-75165200	Weak transcription	Ovary	ovary
3	chr11:75144200-75164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:75144200-75165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:75144200-75186600	Weak transcription	Gastric	stomach
6	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:75144600-75174000	Weak transcription	Liver	Liver
8	chr11:75145000-75162400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:75145000-75167800	Strong transcription	Placenta	Placenta
10	chr11:75145200-75165200	Weak transcription	A549	lung
11	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
13	chr11:75146400-75163200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:75148000-75163800	Weak transcription	Lung	lung
17	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:75152800-75161600	Weak transcription	Pancreas	Pancrea
20	chr11:75153000-75161200	Weak transcription	Right Ventricle	heart
21	chr11:75153000-75162200	Weak transcription	HepG2	liver
22	chr11:75153000-75162800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:75153400-75168000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:75153600-75167200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:75154400-75165400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:75154400-75165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:75156800-75161200	Weak transcription	Esophagus	oesophagus
29	chr11:75158800-75161400	Genic enhancers	Spleen	Spleen
30	chr11:75158800-75161600	Strong transcription	Adipose Nuclei	Adipose
31	chr11:75159000-75160600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:75159000-75164400	Strong transcription	HSMMtube	muscle
33	chr11:75159000-75172800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:75159400-75160800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:75159400-75160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:75160200-75161200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:75160400-75160600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:75160400-75162400	Weak transcription	Fetal Intestine Large	intestine

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