Variant report

Variant	rs3763937
Chromosome Location	chr11:34936252-34936253
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10488801	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10488803	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10488804	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10488806	0.86[JPT][hapmap]
rs1049306	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1049307	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11032922	0.80[ASN][1000 genomes]
rs11032923	0.80[ASN][1000 genomes]
rs11032925	0.83[ASN][1000 genomes]
rs11032926	0.83[ASN][1000 genomes]
rs11032927	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11032937	1.00[JPT][hapmap]
rs11032938	1.00[JPT][hapmap]
rs11032940	1.00[JPT][hapmap]
rs11032941	1.00[JPT][hapmap]
rs11032942	1.00[JPT][hapmap]
rs11032943	1.00[JPT][hapmap]
rs11500297	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11500298	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12273153	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12273271	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12275620	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12275911	1.00[JPT][hapmap]
rs12276735	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12278245	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12282552	0.83[ASN][1000 genomes]
rs12283472	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12283652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12283763	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12285752	0.86[JPT][hapmap]
rs12286538	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288594	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12292719	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs12293733	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs12294125	1.00[JPT][hapmap]
rs16926295	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16926431	0.83[ASN][1000 genomes]
rs16926448	0.83[ASN][1000 genomes]
rs2033356	0.96[ASN][1000 genomes]
rs2901525	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3763924	0.83[ASN][1000 genomes]
rs3763925	0.83[ASN][1000 genomes]
rs3763926	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3763929	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3763930	0.83[ASN][1000 genomes]
rs3763931	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3763932	0.83[ASN][1000 genomes]
rs3763933	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3763934	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3763935	0.83[ASN][1000 genomes]
rs3763936	0.83[ASN][1000 genomes]
rs3794165	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3794166	0.83[ASN][1000 genomes]
rs3794170	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3794172	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3818393	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3818396	0.83[ASN][1000 genomes]
rs3818397	0.83[ASN][1000 genomes]
rs3818401	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6484746	1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102259	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7104418	0.83[ASN][1000 genomes]
rs7104829	0.83[ASN][1000 genomes]
rs7104943	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104984	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7105141	0.83[ASN][1000 genomes]
rs7105167	0.83[ASN][1000 genomes]
rs7105174	0.83[ASN][1000 genomes]
rs7110223	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7111607	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7113708	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7116386	0.83[ASN][1000 genomes]
rs7116411	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7119958	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7121117	0.83[ASN][1000 genomes]
rs7121341	0.83[ASN][1000 genomes]
rs7126659	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7129830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7130867	0.80[ASN][1000 genomes]
rs7130874	0.80[ASN][1000 genomes]
rs7131118	0.83[ASN][1000 genomes]
rs7924409	0.80[ASN][1000 genomes]
rs7931454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7938962	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7941930	1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7947650	1.00[JPT][hapmap]
rs7952208	1.00[JPT][hapmap]
rs7952624	0.80[ASN][1000 genomes]
rs7952629	0.80[ASN][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	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv34511	chr11:34914124-34942836	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv2756165	chr11:34914137-34942836	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs3763937	APIP	cis	lung	GTEx
rs3763937	APIP	cis	Whole Blood	GTEx
rs3763937	APIP	cis	Esophagus Muscularis	GTEx
rs3763937	APIP	cis	Adipose Subcutaneous	GTEx
rs3763937	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs3763937	APIP	cis	Artery Tibial	GTEx
rs3763937	APIP	cis	Thyroid	GTEx
rs3763937	APIP	cis	Muscle Skeletal	GTEx
rs3763937	APIP	cis	Heart Left Ventricle	GTEx
rs3763937	APIP	cis	multi-tissue	Pritchard
rs3763937	APIP	cis	Esophagus Mucosa	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34922400-34936600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:34922400-34936600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:34922600-34936600	Weak transcription	NHEK	skin
4	chr11:34922800-34936600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:34923000-34936800	Weak transcription	Colonic Mucosa	Colon
6	chr11:34923200-34936600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:34923200-34936600	Weak transcription	NHLF	lung
8	chr11:34923600-34937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:34925000-34936600	Weak transcription	Fetal Kidney	kidney
10	chr11:34925000-34937000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:34925200-34936600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:34925200-34936600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:34925600-34936600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:34925600-34937000	Weak transcription	Ovary	ovary
15	chr11:34926200-34936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:34929200-34937000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:34929400-34936600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:34929400-34936600	Weak transcription	Osteobl	bone
19	chr11:34930200-34937000	Weak transcription	Aorta	Aorta
20	chr11:34930400-34936600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:34930600-34936600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:34930600-34936600	Weak transcription	Brain Angular Gyrus	brain
23	chr11:34930800-34936600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:34931200-34936600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:34931200-34936600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:34931200-34937000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:34931200-34937000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:34931200-34937000	Weak transcription	Esophagus	oesophagus
29	chr11:34931200-34937000	Weak transcription	Lung	lung
30	chr11:34931400-34936600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:34931400-34936600	Weak transcription	A549	lung
32	chr11:34931400-34936600	Weak transcription	HSMM	muscle
33	chr11:34931400-34937000	Weak transcription	Placenta	Placenta
34	chr11:34931400-34937000	Weak transcription	Gastric	stomach
35	chr11:34931600-34936600	Weak transcription	Brain Substantia Nigra	brain
36	chr11:34931800-34936600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:34931800-34936600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:34931800-34936600	Weak transcription	Hela-S3	cervix
39	chr11:34931800-34937000	Weak transcription	Left Ventricle	heart
40	chr11:34932000-34936600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:34932200-34936600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:34932200-34936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:34932400-34936800	Weak transcription	Liver	Liver
44	chr11:34932600-34936600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:34932600-34936600	Weak transcription	Small Intestine	intestine
46	chr11:34932800-34936400	Weak transcription	Primary T cells from cord blood	blood
47	chr11:34932800-34936600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:34932800-34936600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:34932800-34936600	Weak transcription	Primary B cells from cord blood	blood
50	chr11:34932800-34936600	Weak transcription	Duodenum Mucosa	Duodenum

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