Variant report

Variant	rs2956086
Chromosome Location	chr11:34902521-34902522
allele	A/C
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:

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1036070	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1117051	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1117445	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1326940	0.91[GIH][hapmap]
rs1326941	0.91[GIH][hapmap]
rs1326942	0.87[GIH][hapmap]
rs1326944	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1326945	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1359725	0.88[JPT][hapmap]
rs1396880	0.86[ASN][1000 genomes]
rs1396881	0.86[ASN][1000 genomes]
rs1409717	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1430855	0.91[GIH][hapmap]
rs1509662	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1549789	0.86[ASN][1000 genomes]
rs1553757	0.86[ASN][1000 genomes]
rs1553759	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs1553760	0.93[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1553761	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1553762	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1571134	0.89[GIH][hapmap]
rs1828298	0.86[ASN][1000 genomes]
rs1960524	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1991648	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1998603	0.91[GIH][hapmap]
rs1998912	0.89[GIH][hapmap]
rs2025776	0.91[GIH][hapmap]
rs2031686	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2033357	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2033358	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2033360	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2082204	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2116090	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2147341	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2163374	0.86[ASN][1000 genomes]
rs2163375	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2288667	0.91[GIH][hapmap]
rs2421743	0.95[ASN][1000 genomes]
rs2915177	0.95[ASN][1000 genomes]
rs2915178	0.94[ASN][1000 genomes]
rs2915179	0.86[ASN][1000 genomes]
rs2915187	0.88[JPT][hapmap]
rs2915189	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2915191	0.84[AMR][1000 genomes]
rs2915197	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915198	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915201	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915202	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915203	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915208	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2915214	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2915217	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2915218	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2915220	0.88[GIH][hapmap]
rs2915222	0.91[GIH][hapmap]
rs2915224	0.91[GIH][hapmap]
rs2915225	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2915226	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2915228	0.89[ASN][1000 genomes]
rs2915230	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2915231	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2915232	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2915233	0.89[ASN][1000 genomes]
rs2915235	0.89[ASN][1000 genomes]
rs2915237	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2915238	0.95[ASN][1000 genomes]
rs2941040	0.88[ASN][1000 genomes]
rs2941041	0.91[ASN][1000 genomes]
rs2941043	0.86[ASN][1000 genomes]
rs2941044	0.91[ASN][1000 genomes]
rs2941050	0.89[ASN][1000 genomes]
rs2941052	0.89[ASN][1000 genomes]
rs2941054	0.96[ASN][1000 genomes]
rs2941055	0.80[AMR][1000 genomes]
rs2941056	0.93[ASN][1000 genomes]
rs2941057	0.95[ASN][1000 genomes]
rs2941058	0.95[ASN][1000 genomes]
rs2941059	0.83[ASN][1000 genomes]
rs2941060	0.88[ASN][1000 genomes]
rs2956074	0.89[ASN][1000 genomes]
rs2956076	0.86[ASN][1000 genomes]
rs2956077	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2956078	0.92[ASN][1000 genomes]
rs2956079	0.84[ASN][1000 genomes]
rs2956084	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2956095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2956097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2956098	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2956101	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2956106	0.91[GIH][hapmap]
rs2956109	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2956112	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2956116	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956118	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956119	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2956120	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2956125	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2956126	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2956128	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985150	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2985382	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985385	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985389	0.91[GIH][hapmap]
rs2985403	0.91[GIH][hapmap]
rs2986403	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs2986405	0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2986406	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2986407	0.83[AMR][1000 genomes]
rs2986408	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2986412	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2986413	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2986415	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2986417	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2986421	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs496653	0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs520658	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs724714	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs891550	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs919554	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs925289	0.89[ASN][1000 genomes]
rs984690	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[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
rs2956086	MMRP19	cis	multi-tissue	Pritchard
rs2956086	APIP	cis	multi-tissue	Pritchard
rs2956086	APIP	cis	lymphoblastoid	seeQTL
rs2956086	APIP	cis	Lymphoblastoid	GTEx

Chromatin state (count:102 , 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	chr11:34886000-34903200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:34886400-34903400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:34886800-34904400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:34887200-34903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:34888000-34907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:34888400-34903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:34888800-34903600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:34891200-34907000	Weak transcription	Thymus	Thymus
12	chr11:34891200-34919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:34891400-34907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:34891600-34906400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:34892000-34904600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:34892600-34903000	Weak transcription	Primary T cells from cord blood	blood
17	chr11:34892600-34913000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:34893000-34903400	Weak transcription	Fetal Lung	lung
19	chr11:34893000-34921400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:34894400-34903000	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:34894400-34904400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:34894600-34903000	Weak transcription	Brain Substantia Nigra	brain
23	chr11:34894600-34909600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:34894800-34903200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:34895000-34903200	Weak transcription	Fetal Brain Female	brain
26	chr11:34895000-34912000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:34895000-34921200	Weak transcription	Right Ventricle	heart
28	chr11:34895400-34912000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:34895800-34907000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:34896000-34908200	Weak transcription	Liver	Liver
31	chr11:34896000-34912200	Weak transcription	K562	blood
32	chr11:34896200-34909800	Weak transcription	Pancreas	Pancrea
33	chr11:34896600-34903200	Weak transcription	Adipose Nuclei	Adipose
34	chr11:34896600-34903200	Weak transcription	Brain Germinal Matrix	brain
35	chr11:34896600-34907200	Weak transcription	Esophagus	oesophagus
36	chr11:34896600-34911600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:34897000-34903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:34897000-34913000	Weak transcription	Lung	lung
39	chr11:34897000-34919200	Weak transcription	Fetal Stomach	stomach
40	chr11:34897200-34907200	Weak transcription	Aorta	Aorta
41	chr11:34897200-34907400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:34897400-34903200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:34897600-34919200	Weak transcription	Fetal Heart	heart
44	chr11:34898200-34926800	Weak transcription	HSMMtube	muscle
45	chr11:34898400-34908200	Weak transcription	Psoas Muscle	Psoas
46	chr11:34898400-34912800	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:34898600-34908400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:34898800-34903200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:34899000-34917400	Weak transcription	HSMM	muscle
50	chr11:34899200-34903200	Weak transcription	Fetal Intestine Large	intestine

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