Variant report

Variant	rs2915225
Chromosome Location	chr11:34903513-34903514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34902171..34905372-chr11:34909717..34912345,3	K562	blood:
2	chr11:34899153..34900913-chr11:34902618..34905230,2	K562	blood:

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1036070	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117051	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1117445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326944	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1326945	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1359725	0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs1409717	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1509662	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549791	0.83[ASN][1000 genomes]
rs1553758	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1553759	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553760	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553761	0.86[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1553762	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1858166	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1960524	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991648	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2031686	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2033355	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2033357	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033358	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033360	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082204	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2116090	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147341	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2163375	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421743	0.84[ASN][1000 genomes]
rs2732556	0.81[AMR][1000 genomes]
rs2761823	0.81[AMR][1000 genomes]
rs2767037	0.81[AMR][1000 genomes]
rs2915177	0.84[ASN][1000 genomes]
rs2915178	0.83[ASN][1000 genomes]
rs2915180	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915187	0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2915189	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2915191	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2915197	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915198	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915201	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915202	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915203	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915208	0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915214	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2915217	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915218	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915226	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915228	1.00[ASN][1000 genomes]
rs2915230	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915231	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915232	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915233	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915235	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915236	0.82[ASN][1000 genomes]
rs2915237	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2915238	0.84[ASN][1000 genomes]
rs2941041	0.81[ASN][1000 genomes]
rs2941042	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2941044	0.81[ASN][1000 genomes]
rs2941045	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2941050	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941052	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941054	0.85[ASN][1000 genomes]
rs2941055	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2941056	0.82[ASN][1000 genomes]
rs2941057	0.84[ASN][1000 genomes]
rs2941058	0.84[ASN][1000 genomes]
rs2941059	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2941061	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2956077	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2956078	0.81[ASN][1000 genomes]
rs2956079	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2956080	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2956084	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956086	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2956095	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956097	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2956098	0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956101	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956109	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956112	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2956116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956118	0.82[CEU][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956119	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956120	0.92[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956125	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956126	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956128	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2985150	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2985382	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985385	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2986402	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2986403	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2986405	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2986406	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2986407	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2986408	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986412	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986413	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2986417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2986421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496653	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs511776	0.81[AMR][1000 genomes]
rs520658	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs522436	0.81[AFR][1000 genomes]
rs568932	0.81[AMR][1000 genomes]
rs724714	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs733567	0.81[AMR][1000 genomes]
rs7808	0.81[AMR][1000 genomes]
rs891550	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919554	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925289	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2915225	APIP	Cis_1M	lymphoblastoid	RTeQTL
rs2915225	APIP	cis	Lymphoblastoid	GTEx
rs2915225	APIP	cis	multi-tissue	Pritchard
rs2915225	MMRP19	cis	multi-tissue	Pritchard

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34877600-34906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
4	chr11:34886800-34904400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:34888000-34907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:34888800-34903600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:34891200-34907000	Weak transcription	Thymus	Thymus
8	chr11:34891200-34919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:34891400-34907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:34891600-34906400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:34892000-34904600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:34892600-34913000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:34893000-34921400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:34894400-34904400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:34894600-34909600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:34895000-34912000	Weak transcription	Brain Angular Gyrus	brain
17	chr11:34895000-34921200	Weak transcription	Right Ventricle	heart
18	chr11:34895400-34912000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:34895800-34907000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:34896000-34908200	Weak transcription	Liver	Liver
21	chr11:34896000-34912200	Weak transcription	K562	blood
22	chr11:34896200-34909800	Weak transcription	Pancreas	Pancrea
23	chr11:34896600-34907200	Weak transcription	Esophagus	oesophagus
24	chr11:34896600-34911600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:34897000-34913000	Weak transcription	Lung	lung
26	chr11:34897000-34919200	Weak transcription	Fetal Stomach	stomach
27	chr11:34897200-34907200	Weak transcription	Aorta	Aorta
28	chr11:34897200-34907400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:34897600-34919200	Weak transcription	Fetal Heart	heart
30	chr11:34898200-34926800	Weak transcription	HSMMtube	muscle
31	chr11:34898400-34908200	Weak transcription	Psoas Muscle	Psoas
32	chr11:34898400-34912800	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:34898600-34908400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:34899000-34917400	Weak transcription	HSMM	muscle
35	chr11:34899400-34905400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:34899600-34907800	Weak transcription	Small Intestine	intestine
37	chr11:34900000-34911600	Weak transcription	A549	lung
38	chr11:34900000-34918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:34900200-34904400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:34900200-34917200	Weak transcription	HUVEC	blood vessel
41	chr11:34900200-34921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:34900400-34904200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:34900600-34909800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:34901000-34911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:34901200-34907200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:34901200-34910600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:34901400-34905600	Strong transcription	Fetal Thymus	thymus
48	chr11:34901400-34906000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:34901400-34907000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:34901400-34917400	Weak transcription	Fetal Kidney	kidney

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