Variant report

Variant	rs35912781
Chromosome Location	chr11:120360271-120360272
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	chr11:120351611..120354490-chr11:120357037..120360883,5	K562	blood:
2	chr11:120358166..120361369-chr11:120373288..120377165,4	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10502236	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10892573	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892579	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs10892580	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892581	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217837	0.85[EUR][1000 genomes]
rs11217847	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217853	0.90[EUR][1000 genomes]
rs11217859	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217860	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217861	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11217865	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217868	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217871	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217872	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11217873	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217879	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217881	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217883	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217886	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217889	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217890	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600200	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600558	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600723	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602796	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606928	1.00[ASN][1000 genomes]
rs11607944	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361340	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361642	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362794	1.00[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12363974	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363975	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120430	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs4537767	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329702	0.83[EUR][1000 genomes]
rs57912596	0.95[EUR][1000 genomes]
rs61898768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900794	0.91[EUR][1000 genomes]
rs61900795	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551874	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67617613	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7108596	0.95[EUR][1000 genomes]
rs7110955	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs7120040	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7120174	1.00[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73582205	1.00[ASN][1000 genomes]
rs73584117	1.00[ASN][1000 genomes]
rs73584140	1.00[ASN][1000 genomes]
rs747419	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs766894	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943147	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7948299	0.98[EUR][1000 genomes]
rs9625	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666435	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9666441	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs35912781	UPK2	cis	cerebellum	SCAN
rs35912781	RNF214	cis	cerebellum	SCAN
rs35912781	TMEM136	cis	cerebellum	SCAN
rs35912781	MPZL3	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120314200-120362200	Strong transcription	Liver	Liver
2	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:120339800-120362200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:120356000-120365000	Weak transcription	Fetal Heart	heart
5	chr11:120356200-120370800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:120356400-120360400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:120356400-120363400	Weak transcription	NHEK	skin
8	chr11:120356400-120365200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:120356600-120364000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:120356600-120365600	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:120356600-120365800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:120356600-120366400	Weak transcription	Fetal Kidney	kidney
13	chr11:120356600-120370800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:120356800-120363800	Weak transcription	GM12878-XiMat	blood
15	chr11:120356800-120365400	Weak transcription	Stomach Mucosa	stomach
16	chr11:120357000-120361400	Weak transcription	HSMMtube	muscle
17	chr11:120357200-120360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:120357200-120361200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:120357200-120363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:120357200-120363400	Weak transcription	Pancreas	Pancrea
21	chr11:120357200-120364200	Weak transcription	Brain Germinal Matrix	brain
22	chr11:120357200-120365200	Weak transcription	K562	blood
23	chr11:120357200-120365400	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:120357200-120366200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:120357200-120368600	Weak transcription	Spleen	Spleen
26	chr11:120357200-120374000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:120357400-120360800	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:120357400-120363200	Weak transcription	Ovary	ovary
29	chr11:120357400-120365400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:120357400-120365600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:120357400-120367200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:120357400-120367600	Weak transcription	HUVEC	blood vessel
33	chr11:120357800-120368000	Weak transcription	NH-A	brain
34	chr11:120357800-120371400	Weak transcription	Adipose Nuclei	Adipose
35	chr11:120358000-120361200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:120358000-120370600	Weak transcription	Osteobl	bone
37	chr11:120358200-120361600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:120358200-120365400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:120358400-120365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:120358400-120367200	Weak transcription	Fetal Lung	lung
41	chr11:120358600-120360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:120358600-120360400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:120358600-120360600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:120358600-120361400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:120358600-120361400	Weak transcription	Aorta	Aorta
46	chr11:120358600-120362800	Weak transcription	Lung	lung
47	chr11:120358600-120363400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:120358600-120363800	Weak transcription	NHDF-Ad	bronchial
49	chr11:120358600-120364000	Weak transcription	Brain Anterior Caudate	brain
50	chr11:120358600-120365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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