Variant report

Variant	rs35156678
Chromosome Location	chr11:62369881-62369882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1061093	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs11231141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231145	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231151	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231152	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231154	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231155	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11231156	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231161	0.96[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11231176	1.00[JPT][hapmap]
rs11553576	0.96[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12049914	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12223627	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12225213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12226821	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12808829	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17773169	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs1801144	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2428548	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2428549	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2509961	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap]
rs2509982	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2512562	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2512563	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2516633	0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.81[ASN][1000 genomes]
rs2516634	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2849030	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2849031	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34065644	0.93[ASN][1000 genomes]
rs34894392	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35587183	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs35880596	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923805	0.86[ASN][1000 genomes]
rs58720921	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60098285	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61296092	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67308910	0.89[ASN][1000 genomes]
rs7124057	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71490390	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71490392	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs71490394	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72927213	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7928833	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7930896	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7937146	0.85[AMR][1000 genomes]
rs7942154	0.86[AFR][1000 genomes]
rs7942991	0.89[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7943191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
6	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
8	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
9	nsv897622	chr11:62366986-62392229	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv3423373	chr11:62368801-62371349	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	n/a

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs35156678	EEF1G	cis	multi-tissue	Pritchard
rs35156678	EEF1G///LOC729998	N/A	lymphoblastoid	RTeQTL
rs35156678	EML3	cis	cerebellum	SCAN
rs35156678	ROM1	cis	Thyroid	GTEx
rs35156678	MTA2	cis	Esophagus Mucosa	GTEx
rs35156678	TUT1	cis	parietal	SCAN
rs35156678	CFL1	cis	parietal	SCAN
rs35156678	C11orf48	cis	cerebellum	SCAN
rs35156678	EML3	cis	Whole Blood	GTEx
rs35156678	SCYL1	cis	parietal	SCAN
rs35156678	SLC22A25	cis	parietal	SCAN
rs35156678	EML3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62367600-62370000	Active TSS	Right Atrium	heart
2	chr11:62367600-62370400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:62367600-62370600	Active TSS	Ovary	ovary
4	chr11:62367600-62370800	Active TSS	Aorta	Aorta
5	chr11:62367800-62370000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:62367800-62370000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:62367800-62370200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:62367800-62370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:62367800-62370200	Active TSS	Fetal Kidney	kidney
10	chr11:62367800-62370600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:62367800-62370600	Active TSS	Psoas Muscle	Psoas
12	chr11:62368000-62370000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:62368000-62370000	Active TSS	Gastric	stomach
14	chr11:62368000-62370000	Active TSS	Placenta Amnion	Placenta Amnion
15	chr11:62368000-62370200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:62368200-62370000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:62368200-62370000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:62368200-62370000	Active TSS	Left Ventricle	heart
19	chr11:62368200-62370000	Active TSS	Right Ventricle	heart
20	chr11:62368200-62370000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:62368200-62370000	Active TSS	Spleen	Spleen
22	chr11:62368200-62370000	Active TSS	A549	lung
23	chr11:62368200-62370000	Active TSS	Hela-S3	cervix
24	chr11:62368200-62370200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:62368200-62370200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:62368200-62370200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:62368200-62370200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:62368200-62370200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:62368200-62370200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:62368200-62370200	Active TSS	Fetal Stomach	stomach
31	chr11:62368200-62370200	Active TSS	NHDF-Ad	bronchial
32	chr11:62368200-62370400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:62368200-62370400	Active TSS	Colon Smooth Muscle	Colon
34	chr11:62368200-62370400	Active TSS	Fetal Lung	lung
35	chr11:62368200-62370400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:62368200-62370400	Active TSS	Rectal Smooth Muscle	rectum
37	chr11:62368200-62370400	Active TSS	HSMM	muscle
38	chr11:62368200-62370600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr11:62368200-62370600	Active TSS	Small Intestine	intestine
40	chr11:62368200-62370800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:62368200-62370800	Active TSS	Esophagus	oesophagus
42	chr11:62368400-62370000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:62368400-62370000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:62368400-62370200	Active TSS	Primary T cells from cord blood	blood
45	chr11:62368400-62370200	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:62368400-62370200	Active TSS	Brain Substantia Nigra	brain
47	chr11:62368400-62370200	Active TSS	HSMMtube	muscle
48	chr11:62368400-62370400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:62368400-62370400	Active TSS	Brain Angular Gyrus	brain
50	chr11:62368400-62370400	Active TSS	Fetal Brain Female	brain

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