Variant report

Variant	rs11217837
Chromosome Location	chr11:120232766-120232767
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	chr11:120221907..120224622-chr11:120232208..120233856,2	K562	blood:
2	chr11:120221867..120224622-chr11:120232208..120234590,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10502236	0.94[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs10892573	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10892579	0.94[CEU][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs10892580	0.85[EUR][1000 genomes]
rs10892581	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11217847	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11217853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11217859	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11217860	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11217861	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11217865	0.89[EUR][1000 genomes]
rs11217868	0.90[EUR][1000 genomes]
rs11217869	0.87[EUR][1000 genomes]
rs11217871	0.87[EUR][1000 genomes]
rs11217872	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs11217873	0.94[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs11217879	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11217881	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs11217883	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11217889	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11217890	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11600200	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11600558	0.90[EUR][1000 genomes]
rs11600723	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11602796	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11607944	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12361340	0.90[EUR][1000 genomes]
rs12361642	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12362794	0.94[CEU][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs12363974	0.84[EUR][1000 genomes]
rs12363975	0.81[EUR][1000 genomes]
rs2120430	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35912781	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs4373935	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs4537767	0.94[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56329702	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57912596	0.89[EUR][1000 genomes]
rs61898768	0.85[EUR][1000 genomes]
rs61900794	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61900795	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67551874	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67617613	0.85[EUR][1000 genomes]
rs7108596	0.89[EUR][1000 genomes]
rs7110955	0.94[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs7120040	0.81[EUR][1000 genomes]
rs7120174	0.94[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs747419	0.94[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs766894	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs7943147	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7948299	0.86[EUR][1000 genomes]
rs9625	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs9666435	0.89[EUR][1000 genomes]
rs9666441	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11217837	MPZL3	cis	parietal	SCAN
rs11217837	UPK2	cis	cerebellum	SCAN
rs11217837	ZNF259	cis	cerebellum	SCAN
rs11217837	TMEM136	cis	cerebellum	SCAN
rs11217837	RNF214	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120216000-120239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:120216400-120244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:120217400-120234000	Weak transcription	Aorta	Aorta
4	chr11:120217600-120257000	Weak transcription	HSMM	muscle
5	chr11:120220400-120232800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:120224800-120248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:120225000-120248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:120225200-120233800	Weak transcription	NHEK	skin
10	chr11:120225200-120234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:120225200-120242200	Weak transcription	A549	lung
12	chr11:120225200-120251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:120225800-120242200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:120226400-120242400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:120226400-120246800	Weak transcription	Small Intestine	intestine
16	chr11:120229800-120234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:120229800-120234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:120229800-120236600	Weak transcription	GM12878-XiMat	blood
19	chr11:120230000-120234400	Weak transcription	Psoas Muscle	Psoas
20	chr11:120231000-120233800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:120231800-120232800	Weak transcription	NHDF-Ad	bronchial
22	chr11:120231800-120233000	Enhancers	Left Ventricle	heart
23	chr11:120231800-120233000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:120231800-120233400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:120231800-120233400	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:120232000-120274800	Weak transcription	Ovary	ovary
27	chr11:120232200-120233000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:120232200-120233200	Enhancers	Fetal Heart	heart
29	chr11:120232200-120233600	Enhancers	Osteobl	bone
30	chr11:120232200-120234400	Weak transcription	Gastric	stomach
31	chr11:120232200-120234400	Weak transcription	Pancreas	Pancrea
32	chr11:120232200-120238400	Weak transcription	Right Ventricle	heart
33	chr11:120232200-120238800	Weak transcription	Right Atrium	heart
34	chr11:120232400-120233200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:120232400-120234000	Enhancers	NHLF	lung
36	chr11:120232400-120234200	Enhancers	HUVEC	blood vessel
37	chr11:120232600-120232800	Weak transcription	HSMMtube	muscle

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