Variant report

Variant	rs2915227
Chromosome Location	chr11:34975067-34975068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1011518	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1011519	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10742331	0.87[ASN][1000 genomes]
rs10742332	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10768106	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10768108	0.92[ASN][1000 genomes]
rs10768110	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836322	0.85[ASN][1000 genomes]
rs10836323	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10836324	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10836326	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1117446	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs12799433	0.94[ASN][1000 genomes]
rs1326940	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1326941	0.88[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1326942	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1326943	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1326948	0.91[ASN][1000 genomes]
rs1430855	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1544079	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1571133	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1571134	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1571135	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1648123	0.82[ASN][1000 genomes]
rs1748073	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1977420	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1977421	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1998603	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs1998912	0.94[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2016821	0.81[ASN][1000 genomes]
rs2025778	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2025779	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025780	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2031687	0.85[ASN][1000 genomes]
rs2217478	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2243929	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243948	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2253128	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2281809	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288667	0.89[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap]
rs2288668	0.94[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2303957	0.86[ASN][1000 genomes]
rs2303959	0.85[JPT][hapmap]
rs2477157	0.85[ASN][1000 genomes]
rs2732531	0.92[ASN][1000 genomes]
rs2732532	0.92[ASN][1000 genomes]
rs2732551	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732555	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732557	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732558	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732559	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732560	0.86[ASN][1000 genomes]
rs2732562	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732563	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732564	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732565	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2761819	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2761820	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2761821	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761822	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762951	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2762953	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762954	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762956	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762957	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762958	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762959	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762960	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762963	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762968	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2762969	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767033	0.92[ASN][1000 genomes]
rs2767034	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767036	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767038	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767039	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767040	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767042	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767043	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767044	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767046	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2767047	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915181	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915183	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915187	0.87[GIH][hapmap]
rs2915190	0.86[ASN][1000 genomes]
rs2915193	0.94[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2915200	0.85[ASN][1000 genomes]
rs2915204	0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2915205	0.94[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2915215	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2915216	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2915220	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2915221	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2915222	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2915223	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2915224	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2956081	0.85[ASN][1000 genomes]
rs2956087	0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2956088	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2956091	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2956099	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956102	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2956105	0.83[ASN][1000 genomes]
rs2956106	0.94[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2956107	0.94[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2956108	0.83[ASN][1000 genomes]
rs2956110	0.81[ASN][1000 genomes]
rs2956111	0.81[ASN][1000 genomes]
rs2956113	0.81[ASN][1000 genomes]
rs2956114	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2956117	0.81[ASN][1000 genomes]
rs2956123	0.85[ASN][1000 genomes]
rs2985149	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985151	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985381	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2985384	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2985389	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2985390	0.89[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs2985391	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2985396	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2985398	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2985399	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2985401	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985403	0.94[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2985404	0.85[ASN][1000 genomes]
rs2985405	0.94[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2986404	0.86[ASN][1000 genomes]
rs2986409	0.85[ASN][1000 genomes]
rs2986410	0.94[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2986414	0.81[ASN][1000 genomes]
rs2986416	0.81[ASN][1000 genomes]
rs2986418	0.81[ASN][1000 genomes]
rs2986424	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs2986425	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2986427	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2986429	0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs3118072	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3932539	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs496620	0.82[ASN][1000 genomes]
rs497109	0.92[ASN][1000 genomes]
rs497582	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs504034	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514182	0.83[ASN][1000 genomes]
rs523472	0.92[ASN][1000 genomes]
rs589626	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614668	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891546	0.80[ASN][1000 genomes]
rs9326	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs952489	0.92[ASN][1000 genomes]
rs9667348	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs967505	0.85[ASN][1000 genomes]
rs967506	0.84[ASN][1000 genomes]
rs997664	0.92[ASN][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	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	esv2754010	chr11:34940724-35001024	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2915227	APIP	cis	Lymphoblastoid	GTEx
rs2915227	APIP	cis	multi-tissue	Pritchard
rs2915227	APIP	cis	Esophagus Muscularis	GTEx
rs2915227	APIP	cis	lymphoblastoid	seeQTL
rs2915227	MMRP19	cis	multi-tissue	Pritchard
rs2915227	PDHX	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34938800-34990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:34939200-35000000	Weak transcription	Thymus	Thymus
3	chr11:34940200-34984800	Weak transcription	Fetal Stomach	stomach
4	chr11:34948000-34990600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:34948000-35000400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:34948000-35006800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:34948200-34997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:34948600-34990400	Weak transcription	HUVEC	blood vessel
9	chr11:34949200-34990400	Weak transcription	NHEK	skin
10	chr11:34950400-34991600	Weak transcription	NHLF	lung
11	chr11:34951000-34981400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:34951400-34986600	Weak transcription	Fetal Thymus	thymus
13	chr11:34951600-34992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:34951800-34985000	Weak transcription	Lung	lung
15	chr11:34951800-34988200	Weak transcription	Fetal Intestine Small	intestine
16	chr11:34951800-35000200	Weak transcription	Psoas Muscle	Psoas
17	chr11:34952200-35010800	Weak transcription	Small Intestine	intestine
18	chr11:34952400-34990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:34954600-34978800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:34954600-34986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:34954600-34987800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:34954600-34991200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:34954800-34988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:34955000-34988200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:34955400-34985200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:34955400-34989000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:34955800-34979200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:34955800-34981200	Weak transcription	Brain Anterior Caudate	brain
29	chr11:34955800-34985000	Weak transcription	Placenta	Placenta
30	chr11:34956200-34980800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:34956400-34990600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:34958200-34978800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:34958200-34978800	Weak transcription	Hela-S3	cervix
34	chr11:34958200-34991600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:34958200-34995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:34959000-34979000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:34959000-35019600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:34960400-34986600	Weak transcription	K562	blood
39	chr11:34960600-34975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:34960600-34983200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:34960800-34981000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:34961400-34990400	Weak transcription	Osteobl	bone
43	chr11:34961800-34997200	Weak transcription	HSMMtube	muscle
44	chr11:34962000-35008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:34962400-34978600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:34962600-34998000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:34962800-35006600	Weak transcription	Esophagus	oesophagus
48	chr11:34963000-34978600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:34963600-34979000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:34963600-34984800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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