Variant report

Variant	rs13154663
Chromosome Location	chr5:60594343-60594344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60593618..60596553-chr5:60596973..60598822,2	K562	blood:
2	chr5:60457666..60459255-chr5:60593266..60595068,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10939897	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939898	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11743133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747144	0.92[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11960587	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs13154581	0.93[CEU][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs13156118	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13162866	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13164720	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171223	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13174916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178686	0.85[CEU][hapmap]
rs13182603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4409043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513641	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449525	0.83[EUR][1000 genomes]
rs6449526	0.87[CEU][hapmap];0.87[CHD][hapmap];0.84[EUR][1000 genomes]
rs6449527	0.81[CEU][hapmap];0.87[CHD][hapmap]
rs6860599	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs6867278	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6870349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6881622	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6889338	0.81[CEU][hapmap]
rs7704636	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
2	chr5:60587000-60594600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:60587000-60595200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:60587000-60597400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:60587200-60595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:60587200-60597200	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:60587200-60597400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:60587400-60594400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:60587400-60594600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:60587400-60595200	Weak transcription	HSMM	muscle
11	chr5:60589200-60594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:60589200-60594600	Weak transcription	Esophagus	oesophagus
13	chr5:60589200-60594600	Weak transcription	Lung	lung
14	chr5:60589200-60597200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:60589400-60597000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:60589400-60597400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:60591800-60597400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:60593000-60594600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:60593400-60595600	Enhancers	HUVEC	blood vessel
20	chr5:60593600-60594800	Weak transcription	Gastric	stomach
21	chr5:60593800-60597200	Enhancers	A549	lung
22	chr5:60594000-60594400	Enhancers	NHEK	skin
23	chr5:60594000-60595200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:60594000-60595200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:60594000-60595400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:60594000-60595400	Enhancers	Stomach Mucosa	stomach
27	chr5:60594000-60595400	Enhancers	NH-A	brain
28	chr5:60594000-60595600	Enhancers	Pancreas	Pancrea
29	chr5:60594000-60596400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:60594000-60596400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:60594000-60596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:60594000-60602400	Enhancers	NHDF-Ad	bronchial
33	chr5:60594000-60602800	Enhancers	HMEC	breast
34	chr5:60594200-60594800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:60594200-60594800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:60594200-60595400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:60594200-60595400	Enhancers	Osteobl	bone
38	chr5:60594200-60597000	Enhancers	NHLF	lung
39	chr5:60594200-60597400	Enhancers	Fetal Lung	lung

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