Variant report

Variant	rs10041718
Chromosome Location	chr5:167630105-167630106
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167629202..167631723-chr5:167632406..167635349,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17069979	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2173018	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2291784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57141803	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57355184	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6875022	0.93[CEU][hapmap];0.83[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6876382	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6880386	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6892072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6897788	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6898935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600255	chr5:167622534-167651603	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv600256	chr5:167622914-167643545	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167608600-167631800	Weak transcription	NH-A	brain
2	chr5:167615800-167633800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:167615800-167646600	Weak transcription	Fetal Heart	heart
4	chr5:167619200-167646600	Weak transcription	NHDF-Ad	bronchial
5	chr5:167620800-167634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167620800-167636400	Weak transcription	HSMMtube	muscle
7	chr5:167621200-167636600	Weak transcription	Brain Anterior Caudate	brain
8	chr5:167621400-167636600	Weak transcription	Fetal Lung	lung
9	chr5:167621400-167657600	Weak transcription	Fetal Brain Female	brain
10	chr5:167621800-167646400	Weak transcription	Brain Germinal Matrix	brain
11	chr5:167622200-167636200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:167622200-167636400	Weak transcription	Fetal Brain Male	brain
13	chr5:167622600-167636600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:167622800-167634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:167623000-167634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:167624000-167631400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:167624000-167636600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:167624600-167634400	Weak transcription	HMEC	breast
19	chr5:167624600-167646600	Weak transcription	Liver	Liver
20	chr5:167624800-167636800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:167625600-167633200	Strong transcription	Left Ventricle	heart
22	chr5:167625600-167633400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:167626400-167636600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:167627200-167631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:167627200-167636400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:167628200-167631200	Weak transcription	Right Ventricle	heart
27	chr5:167628800-167636400	Weak transcription	HSMM	muscle
28	chr5:167629200-167634400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:167629800-167630200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:167629800-167630800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:167630000-167630200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:167630000-167630600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:167630000-167630800	Enhancers	Fetal Muscle Leg	muscle
34	chr5:167630000-167634000	Strong transcription	NHEK	skin
35	chr5:167630000-167635600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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