Variant report

Variant	rs10916134
Chromosome Location	chr1:227566134-227566135
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227505295..227507628-chr1:227565249..227568691,3	K562	blood:
2	chr1:227556870..227561275-chr1:227563192..227568675,6	K562	blood:
3	chr1:227472187..227474714-chr1:227565582..227567693,2	K562	blood:
4	chr1:227561575..227564648-chr1:227564855..227568643,5	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10916132	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916142	0.88[GIH][hapmap]
rs12028062	0.88[GIH][hapmap]
rs12030548	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047468	1.00[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2953640	0.85[CHD][hapmap]
rs2953651	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3014268	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs3014270	0.83[AMR][1000 genomes]
rs6666826	0.83[ASN][1000 genomes]
rs72761380	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7529685	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7546896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10916134	TLR5	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227545800-227571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:227565200-227566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:227565200-227567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:227565400-227566200	Enhancers	Left Ventricle	heart
5	chr1:227565400-227566200	Enhancers	HSMMtube	muscle
6	chr1:227565400-227566400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:227565400-227566800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:227565400-227566800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:227565400-227566800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:227565400-227566800	Enhancers	K562	blood
11	chr1:227565400-227567000	Enhancers	Fetal Heart	heart
12	chr1:227565400-227567200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:227565400-227567200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:227565400-227567400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:227565400-227567400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:227565400-227567400	Enhancers	Psoas Muscle	Psoas
17	chr1:227565400-227567400	Enhancers	Right Atrium	heart
18	chr1:227565400-227567600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:227565600-227567000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:227565600-227567000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:227565600-227567200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:227565800-227567000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:227566000-227566200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:227566000-227566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:227566000-227566400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:227566000-227567200	Enhancers	HMEC	breast
27	chr1:227566000-227567200	Enhancers	NH-A	brain

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