Variant report

Variant	rs2915208
Chromosome Location	chr11:34929912-34929913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34928494..34930891-chr11:34936071..34939196,3	MCF-7	breast:
2	chr11:34919773..34921558-chr11:34929230..34931688,2	K562	blood:
3	chr11:34928718..34934554-chr11:34935181..34939232,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction
ENSG00000110435	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1036070	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117051	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1117445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326944	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1326945	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1359725	0.80[AMR][1000 genomes]
rs1409717	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1509662	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549791	0.83[ASN][1000 genomes]
rs1553758	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1553759	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553760	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553761	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1553762	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1858166	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1960524	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991648	0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2031686	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2033355	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2033357	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033358	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033360	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082204	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2116090	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147341	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2163375	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421743	0.84[ASN][1000 genomes]
rs2732556	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2761823	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2767037	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2915177	0.84[ASN][1000 genomes]
rs2915178	0.83[ASN][1000 genomes]
rs2915180	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915187	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915189	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2915191	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2915197	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915198	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915201	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915202	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915203	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915214	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2915217	0.91[YRI][hapmap];0.97[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]
rs2915225	0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915228	1.00[ASN][1000 genomes]
rs2915230	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915231	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915232	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915233	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915235	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915236	0.82[ASN][1000 genomes]
rs2915237	0.91[AMR][1000 genomes];0.90[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];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2941044	0.81[ASN][1000 genomes]
rs2941045	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2941050	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941052	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941054	0.85[ASN][1000 genomes]
rs2941055	0.91[AMR][1000 genomes];0.85[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];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2941061	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2956077	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2956078	0.81[ASN][1000 genomes]
rs2956079	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2956080	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2956084	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956086	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2956095	0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956097	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2956098	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956101	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956109	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956112	0.90[CEU][hapmap]
rs2956116	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956118	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956119	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956120	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956125	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956126	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956128	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2985150	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2985382	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.82[EUR][1000 genomes]
rs2986403	0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2986405	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2986406	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2986407	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2986408	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986412	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986413	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2986417	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2986421	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496653	0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511776	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs520658	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs522436	0.84[AFR][1000 genomes]
rs568932	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs724714	0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs733567	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7808	0.81[AMR][1000 genomes]
rs891550	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919554	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925289	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984690	0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv8807	chr11:34912167-34930289	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2915208	APIP	Cis_1M	lymphoblastoid	RTeQTL
rs2915208	APIP	cis	multi-tissue	Pritchard

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34917600-34931000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:34920000-34935800	Weak transcription	Fetal Heart	heart
3	chr11:34922400-34936600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:34922400-34936600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:34922600-34936200	Weak transcription	Right Ventricle	heart
6	chr11:34922600-34936600	Weak transcription	NHEK	skin
7	chr11:34922800-34936600	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:34923000-34930200	ZNF genes & repeats	Fetal Brain Female	brain
9	chr11:34923000-34930400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:34923000-34931000	Weak transcription	Gastric	stomach
11	chr11:34923000-34931000	Weak transcription	Lung	lung
12	chr11:34923000-34934600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:34923000-34934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:34923000-34936000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:34923000-34936800	Weak transcription	Colonic Mucosa	Colon
16	chr11:34923200-34936600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:34923200-34936600	Weak transcription	NHLF	lung
18	chr11:34923400-34930000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:34923400-34935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:34923400-34935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:34923600-34930000	Weak transcription	Pancreas	Pancrea
22	chr11:34923600-34935200	Weak transcription	NHDF-Ad	bronchial
23	chr11:34923600-34936200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:34923600-34937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:34923800-34930000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:34923800-34932200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:34924000-34931000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:34924200-34932400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:34924200-34936200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:34924600-34931000	Weak transcription	Placenta	Placenta
31	chr11:34924800-34931000	Weak transcription	Fetal Stomach	stomach
32	chr11:34925000-34936600	Weak transcription	Fetal Kidney	kidney
33	chr11:34925000-34937000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:34925200-34930000	Weak transcription	Adipose Nuclei	Adipose
35	chr11:34925200-34930600	Weak transcription	Primary T cells from cord blood	blood
36	chr11:34925200-34934400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:34925200-34936600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:34925200-34936600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:34925600-34930400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:34925600-34930600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:34925600-34934400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:34925600-34936600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:34925600-34937000	Weak transcription	Ovary	ovary
44	chr11:34925800-34931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:34926200-34936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:34926400-34931000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:34926400-34931400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:34926400-34935400	Weak transcription	Dnd41	blood
49	chr11:34926400-34935600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:34927000-34931000	Weak transcription	Fetal Brain Male	brain

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