Variant report

Variant	rs2915234
Chromosome Location	chr11:34891379-34891380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34604587..34607493-chr11:34890085..34892245,2	K562	blood:
2	chr11:34891300..34893978-chr11:34898665..34900460,2	K562	blood:
3	chr11:34890239..34892870-chr11:34894138..34896164,2	K562	blood:
4	chr11:34891295..34892870-chr11:34893606..34896164,2	K562	blood:

Extended variants
information (count: 184 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs1011518	0.86[ASN][1000 genomes]
rs1011519	0.86[ASN][1000 genomes]
rs10742331	0.82[ASN][1000 genomes]
rs10742332	0.86[ASN][1000 genomes]
rs10768103	1.00[ASN][1000 genomes]
rs10768106	0.83[ASN][1000 genomes]
rs10768108	0.86[ASN][1000 genomes]
rs10768110	0.86[ASN][1000 genomes]
rs10836322	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836324	0.84[ASN][1000 genomes]
rs10836326	0.86[ASN][1000 genomes]
rs11032916	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1326940	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1326941	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1326942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1326943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1326948	0.84[ASN][1000 genomes]
rs1430855	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1430856	1.00[ASN][1000 genomes]
rs1544079	0.94[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs1571133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1571134	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1571135	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748073	0.86[ASN][1000 genomes]
rs1977420	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1998602	0.92[ASN][1000 genomes]
rs1998603	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1998604	1.00[ASN][1000 genomes]
rs1998912	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2016821	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2025776	0.98[ASN][1000 genomes]
rs2025777	0.98[ASN][1000 genomes]
rs2025778	0.84[ASN][1000 genomes]
rs2025779	0.86[ASN][1000 genomes]
rs2025780	0.86[ASN][1000 genomes]
rs2031687	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2116084	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2217478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2243929	0.86[ASN][1000 genomes]
rs2243948	0.86[ASN][1000 genomes]
rs2253128	0.86[ASN][1000 genomes]
rs2288667	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288668	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2303957	0.92[ASN][1000 genomes]
rs2303958	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303959	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732531	0.84[ASN][1000 genomes]
rs2732532	0.84[ASN][1000 genomes]
rs2732551	0.86[ASN][1000 genomes]
rs2732555	0.86[ASN][1000 genomes]
rs2732559	0.86[ASN][1000 genomes]
rs2732560	0.82[ASN][1000 genomes]
rs2732562	0.86[ASN][1000 genomes]
rs2732563	0.86[ASN][1000 genomes]
rs2732564	0.86[ASN][1000 genomes]
rs2732565	0.86[ASN][1000 genomes]
rs2761820	0.86[ASN][1000 genomes]
rs2762951	0.85[ASN][1000 genomes]
rs2762953	0.86[ASN][1000 genomes]
rs2762954	0.86[ASN][1000 genomes]
rs2762956	0.94[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2762957	0.86[ASN][1000 genomes]
rs2762959	0.86[ASN][1000 genomes]
rs2762963	0.86[ASN][1000 genomes]
rs2762968	0.85[ASN][1000 genomes]
rs2762969	0.85[ASN][1000 genomes]
rs2767033	0.85[ASN][1000 genomes]
rs2767034	0.86[ASN][1000 genomes]
rs2767036	0.86[ASN][1000 genomes]
rs2767038	0.86[ASN][1000 genomes]
rs2767039	0.86[ASN][1000 genomes]
rs2767040	0.86[ASN][1000 genomes]
rs2767042	0.86[ASN][1000 genomes]
rs2767043	0.86[ASN][1000 genomes]
rs2767044	0.86[ASN][1000 genomes]
rs2767046	0.86[ASN][1000 genomes]
rs2767047	0.86[ASN][1000 genomes]
rs2915183	0.86[ASN][1000 genomes]
rs2915190	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915193	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915200	0.92[ASN][1000 genomes]
rs2915204	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915205	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915206	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2915211	0.97[ASN][1000 genomes]
rs2915212	0.97[ASN][1000 genomes]
rs2915215	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915216	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915219	1.00[ASN][1000 genomes]
rs2915220	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2915221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2915222	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2915223	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2915224	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2915236	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2941040	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2941047	1.00[ASN][1000 genomes]
rs2941048	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941049	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941054	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2941056	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2956078	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2956081	0.93[ASN][1000 genomes]
rs2956082	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956083	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956087	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956088	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2956089	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956090	1.00[ASN][1000 genomes]
rs2956091	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2956092	1.00[ASN][1000 genomes]
rs2956093	0.99[ASN][1000 genomes]
rs2956094	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956096	1.00[ASN][1000 genomes]
rs2956099	0.86[ASN][1000 genomes]
rs2956105	0.93[ASN][1000 genomes]
rs2956106	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2956107	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2956108	0.93[ASN][1000 genomes]
rs2956110	0.95[ASN][1000 genomes]
rs2956111	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956113	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956114	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956115	0.93[ASN][1000 genomes]
rs2956117	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956121	0.98[ASN][1000 genomes]
rs2956123	0.93[ASN][1000 genomes]
rs2985149	0.86[ASN][1000 genomes]
rs2985151	0.86[ASN][1000 genomes]
rs2985381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2985383	0.98[ASN][1000 genomes]
rs2985384	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2985386	1.00[ASN][1000 genomes]
rs2985387	0.97[ASN][1000 genomes]
rs2985388	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2985390	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2985392	1.00[ASN][1000 genomes]
rs2985393	1.00[ASN][1000 genomes]
rs2985394	1.00[ASN][1000 genomes]
rs2985395	1.00[ASN][1000 genomes]
rs2985396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2985397	1.00[ASN][1000 genomes]
rs2985398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2985399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2985400	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985403	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2985404	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2985405	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2986404	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2986409	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2986410	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2986414	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986416	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2986418	0.95[ASN][1000 genomes]
rs2986419	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2986420	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2986422	1.00[ASN][1000 genomes]
rs2986423	1.00[ASN][1000 genomes]
rs2986424	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2986425	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2986426	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2986427	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2986428	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2986429	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3932539	0.84[ASN][1000 genomes]
rs496620	0.86[CHD][hapmap]
rs497109	0.84[ASN][1000 genomes]
rs497582	0.86[ASN][1000 genomes]
rs504034	0.94[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs523472	0.84[ASN][1000 genomes]
rs614668	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs746124	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs891546	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9326	0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs952489	0.84[ASN][1000 genomes]
rs967505	0.93[ASN][1000 genomes]
rs967506	0.93[ASN][1000 genomes]
rs997664	0.84[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	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2915234	APIP	cis	multi-tissue	Pritchard
rs2915234	PDHX	cis	cerebellum	SCAN
rs2915234	TRIM44	cis	cerebellum	SCAN
rs2915234	APIP	cis	lymphoblastoid	seeQTL
rs2915234	PDHX	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34876600-34896000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:34877600-34906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:34878200-34891400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:34880200-34898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
7	chr11:34885000-34896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:34886000-34903200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:34886400-34903400	Weak transcription	Primary B cells from cord blood	blood
10	chr11:34886600-34896000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:34886800-34904400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:34887200-34903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:34887400-34895800	Weak transcription	Aorta	Aorta
14	chr11:34888000-34907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:34888200-34896600	Weak transcription	Lung	lung
16	chr11:34888400-34896400	Weak transcription	Adipose Nuclei	Adipose
17	chr11:34888400-34903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:34888600-34901400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:34888800-34903600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:34890800-34891600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:34891000-34891400	Enhancers	Esophagus	oesophagus
22	chr11:34891000-34891600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:34891200-34891800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:34891200-34901600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:34891200-34907000	Weak transcription	Thymus	Thymus
26	chr11:34891200-34919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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