Variant report

Variant	rs41416744
Chromosome Location	chr5:167188873-167188874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10060956	1.00[CHB][hapmap]
rs10516040	0.82[CHB][hapmap]
rs12656874	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12657312	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12657597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1549309	1.00[CHB][hapmap]
rs17068869	1.00[TSI][hapmap]
rs17069029	1.00[CEU][hapmap]
rs2287764	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2337016	1.00[CEU][hapmap]
rs279412	1.00[CEU][hapmap]
rs34206266	0.81[AMR][1000 genomes]
rs7701095	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[MEX][hapmap]

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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167182200-167191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167182400-167190200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:167183400-167197200	Weak transcription	HSMMtube	muscle
4	chr5:167183600-167190600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:167184000-167191800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167185000-167192800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:167185200-167193000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167186600-167190600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:167186800-167190400	Weak transcription	Osteobl	bone
10	chr5:167186800-167190600	Weak transcription	NHDF-Ad	bronchial
11	chr5:167186800-167191200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:167186800-167197200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:167187000-167190400	Weak transcription	NH-A	brain
14	chr5:167187400-167189600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:167187600-167190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:167188000-167190000	Weak transcription	HMEC	breast
17	chr5:167188000-167191600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:167188200-167190000	Weak transcription	NHEK	skin
19	chr5:167188800-167189000	Enhancers	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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