Variant report

Variant	rs2477157
Chromosome Location	chr11:35013450-35013451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1011518	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1011519	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10742331	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10742332	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10768106	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10768110	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10836323	0.85[ASN][1000 genomes]
rs10836324	0.90[EUR][1000 genomes]
rs10836326	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12799433	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1326948	0.89[EUR][1000 genomes]
rs1544079	0.90[EUR][1000 genomes]
rs1748073	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2025778	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2025779	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2025780	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2243929	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2243948	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2253128	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2281809	0.85[ASN][1000 genomes]
rs2469911	0.84[EUR][1000 genomes]
rs2732531	0.83[EUR][1000 genomes]
rs2732532	0.84[EUR][1000 genomes]
rs2732551	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2732555	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2732557	0.85[ASN][1000 genomes]
rs2732558	0.85[ASN][1000 genomes]
rs2732559	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2732560	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2732562	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2732563	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2732564	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2732565	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2761819	0.84[ASN][1000 genomes]
rs2761820	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2761821	0.85[ASN][1000 genomes]
rs2761822	0.85[ASN][1000 genomes]
rs2762951	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762953	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762954	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2762956	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762957	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762958	0.85[ASN][1000 genomes]
rs2762959	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762960	0.85[ASN][1000 genomes]
rs2762963	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762968	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2762969	0.90[EUR][1000 genomes]
rs2767033	0.91[EUR][1000 genomes]
rs2767034	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2767036	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2767038	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767039	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767040	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767042	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767043	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767044	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2767046	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767047	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2915181	0.85[ASN][1000 genomes]
rs2915183	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2915227	0.85[ASN][1000 genomes]
rs2956099	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2985149	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2985151	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2985401	0.85[ASN][1000 genomes]
rs3932539	0.83[EUR][1000 genomes]
rs497109	0.84[EUR][1000 genomes]
rs497582	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs504034	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs523472	0.84[EUR][1000 genomes]
rs589626	0.85[ASN][1000 genomes]
rs614668	0.85[ASN][1000 genomes]
rs746124	0.85[ASN][1000 genomes]
rs9326	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs952489	0.84[EUR][1000 genomes]
rs9667348	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs997664	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv897215	chr11:35009233-35048359	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2477157	APIP	cis	Esophagus Muscularis	GTEx
rs2477157	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs2477157	APIP	cis	Thyroid	GTEx
rs2477157	APIP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34959000-35019600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:34976600-35018400	Weak transcription	Spleen	Spleen
3	chr11:34982200-35014200	Weak transcription	Fetal Brain Male	brain
4	chr11:34983600-35018200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:34985200-35026600	Weak transcription	Colonic Mucosa	Colon
6	chr11:34987000-35017000	Weak transcription	K562	blood
7	chr11:34991000-35020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:34992400-35016600	Weak transcription	Fetal Heart	heart
9	chr11:34997600-35019600	Weak transcription	Fetal Kidney	kidney
10	chr11:34999000-35018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:35000600-35035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:35000800-35018200	Weak transcription	Brain Substantia Nigra	brain
13	chr11:35000800-35019600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:35000800-35019800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:35000800-35031000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:35001000-35014400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:35001000-35019600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:35001000-35019600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:35001000-35019600	Weak transcription	HMEC	breast
20	chr11:35001000-35021200	Weak transcription	Lung	lung
21	chr11:35001200-35019600	Weak transcription	NHEK	skin
22	chr11:35006400-35016400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:35006800-35019600	Weak transcription	HUVEC	blood vessel
24	chr11:35007000-35018600	Weak transcription	Thymus	Thymus
25	chr11:35007000-35019600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:35007000-35020600	Weak transcription	Placenta	Placenta
27	chr11:35007000-35026600	Weak transcription	Fetal Intestine Small	intestine
28	chr11:35007000-35028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:35007000-35029800	Weak transcription	Esophagus	oesophagus
30	chr11:35007200-35017600	Weak transcription	Brain Anterior Caudate	brain
31	chr11:35007200-35018200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
33	chr11:35007400-35014400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:35007400-35014800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:35007400-35015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:35007400-35017400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:35007400-35019600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:35007400-35019600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:35007400-35026600	Weak transcription	Fetal Intestine Large	intestine
40	chr11:35007400-35026800	Weak transcription	Fetal Brain Female	brain
41	chr11:35007400-35027800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:35007600-35015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:35007600-35019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:35007600-35019600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:35007600-35020200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:35007800-35019600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:35008000-35013800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:35008000-35015600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:35008400-35018600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:35008600-35015200	Weak transcription	Rectal Mucosa Donor 31	rectum

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