Variant report

Variant	rs4243915
Chromosome Location	chr11:10545404-10545405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10535540..10537535-chr11:10543160..10545486,2	K562	blood:
2	chr11:10500501..10502775-chr11:10545214..10548072,2	K562	blood:
3	chr11:10544840..10547633-chr11:10554007..10556925,3	K562	blood:
4	chr11:10541835..10545303-chr11:10545348..10548762,4	K562	blood:
5	chr11:10540505..10542590-chr11:10544048..10545735,2	K562	blood:
6	chr11:10544820..10548586-chr11:10548781..10551121,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10458930	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10458931	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10500725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770124	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840432	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840433	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840434	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840437	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042865	1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042866	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042868	0.83[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs11042872	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042892	0.86[JPT][hapmap]
rs12448	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1350991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1841811	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054391	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781862	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4146830	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7126551	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7131588	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs728528	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs7932321	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs7939044	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs7943804	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs9300104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv819964	chr11:10537254-10545535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4243915	RNF141	cis	parietal	SCAN
rs4243915	GALNTL4	cis	cerebellum	SCAN
rs4243915	WEE1	cis	cerebellum	SCAN
rs4243915	OLFML1	cis	cerebellum	SCAN
rs4243915	MICAL2	cis	parietal	SCAN
rs4243915	C11orf17	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
2	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
3	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
4	chr11:10522400-10546200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
8	chr11:10526400-10549000	Weak transcription	Ovary	ovary
9	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
11	chr11:10526800-10548800	Weak transcription	Psoas Muscle	Psoas
12	chr11:10528400-10548800	Weak transcription	K562	blood
13	chr11:10528400-10550600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:10528400-10555800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:10533200-10549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:10533200-10552000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:10533200-10561600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:10533200-10561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:10533400-10561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:10533800-10557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:10535600-10556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:10536400-10546000	Weak transcription	A549	lung
23	chr11:10536400-10555600	Strong transcription	Primary B cells from cord blood	blood
24	chr11:10536600-10548600	Weak transcription	NH-A	brain
25	chr11:10537600-10548800	Weak transcription	Brain Germinal Matrix	brain
26	chr11:10538200-10561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:10538400-10550600	Weak transcription	Pancreas	Pancrea
28	chr11:10538400-10561600	Weak transcription	Esophagus	oesophagus
29	chr11:10538400-10561600	Weak transcription	Lung	lung
30	chr11:10539200-10548600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:10539400-10555800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr11:10539600-10547800	Strong transcription	Osteobl	bone
33	chr11:10540000-10546800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:10540000-10548000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:10540200-10546800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:10540200-10548400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:10540200-10549000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:10540200-10553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:10540200-10555400	Strong transcription	Liver	Liver
40	chr11:10540200-10555600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:10540400-10545600	Strong transcription	Fetal Lung	lung
42	chr11:10540400-10549400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:10540400-10551600	Strong transcription	Dnd41	blood
44	chr11:10540400-10553600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:10540600-10546000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:10540600-10546600	Strong transcription	Fetal Intestine Large	intestine
47	chr11:10540600-10547000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr11:10540600-10547200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:10540600-10548000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:10540600-10548800	Strong transcription	Rectal Mucosa Donor 31	rectum

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