Variant report

Variant	rs2169771
Chromosome Location	chr5:114851155-114851156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10055677	0.80[GIH][hapmap]
rs12187973	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs171774	0.85[CHB][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap]
rs173965	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs173966	0.82[ASN][1000 genomes]
rs2546486	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]
rs2546487	0.95[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2559990	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs256939	0.84[ASN][1000 genomes]
rs256940	0.91[CHB][hapmap]
rs256942	0.82[GIH][hapmap]
rs256943	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs256944	0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs256945	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs256954	0.80[GIH][hapmap]
rs256956	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs256959	0.81[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs256964	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs256968	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs256970	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256971	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256972	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256976	0.90[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs256978	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs256984	0.84[ASN][1000 genomes]
rs256986	0.85[ASN][1000 genomes]
rs256987	0.83[ASN][1000 genomes]
rs256988	0.83[ASN][1000 genomes]
rs256991	0.83[ASN][1000 genomes]
rs256993	0.83[ASN][1000 genomes]
rs256996	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs256997	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs256998	0.81[ASN][1000 genomes]
rs400570	0.84[GIH][hapmap]
rs415577	0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs698365	0.84[GIH][hapmap]
rs698366	0.84[GIH][hapmap]
rs813761	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:37 , 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	chr5:114844200-114853200	Weak transcription	NHDF-Ad	bronchial
6	chr5:114844200-114854200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:114844200-114855000	Weak transcription	HSMM	muscle
8	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:114844200-114859800	Weak transcription	Osteobl	bone
11	chr5:114845400-114853400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
14	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:114846600-114858200	Weak transcription	A549	lung
16	chr5:114846600-114860000	Weak transcription	Ovary	ovary
17	chr5:114846800-114854800	Weak transcription	Dnd41	blood
18	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
19	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
22	chr5:114848000-114858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
24	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
25	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
26	chr5:114848600-114857200	Weak transcription	GM12878-XiMat	blood
27	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
28	chr5:114849000-114858600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:114849200-114858200	Weak transcription	K562	blood
30	chr5:114849200-114859200	Weak transcription	HepG2	liver
31	chr5:114849400-114856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:114849400-114858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:114850000-114855800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:114850400-114852400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:114850400-114853400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:114850600-114858200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:114850800-114858000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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