Variant report

Variant	rs11740361
Chromosome Location	chr5:114848789-114848790
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	chr5:114841180..114843374-chr5:114848078..114849908,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1427860	1.00[EUR][1000 genomes]
rs17137925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17137978	1.00[EUR][1000 genomes]
rs17393505	0.96[EUR][1000 genomes]
rs17393664	0.95[EUR][1000 genomes]
rs17395548	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17395582	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473484	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473708	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473792	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17474216	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2194114	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3776801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73780315	0.95[ASN][1000 genomes]
rs7712026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv968980	chr5:114848162-114849261	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114843200-114854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114843200-114858800	Weak transcription	Left Ventricle	heart
3	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114844000-114859000	Weak transcription	HSMMtube	muscle
5	chr5:114844200-114849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:114844200-114853200	Weak transcription	NHDF-Ad	bronchial
7	chr5:114844200-114854200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:114844200-114855000	Weak transcription	HSMM	muscle
9	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:114844200-114859800	Weak transcription	Osteobl	bone
12	chr5:114845400-114853400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
15	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114846600-114858200	Weak transcription	A549	lung
17	chr5:114846600-114860000	Weak transcription	Ovary	ovary
18	chr5:114846800-114854800	Weak transcription	Dnd41	blood
19	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
20	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:114847600-114849000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr5:114847600-114849400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
25	chr5:114848000-114858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
27	chr5:114848200-114849400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:114848400-114849600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
30	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
31	chr5:114848600-114857200	Weak transcription	GM12878-XiMat	blood
32	chr5:114848600-114860200	Weak transcription	Thymus	Thymus

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