Variant report

Variant	rs10916133
Chromosome Location	chr1:227565667-227565668
allele	C/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: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10753434	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10799412	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10916129	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12022275	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs12022338	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12023427	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12028523	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs12057466	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16847690	0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap]
rs3000777	0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs3014272	0.80[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3014274	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4075196	0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4233226	0.87[JPT][hapmap]
rs4233227	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4294380	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4489522	0.87[EUR][1000 genomes]
rs4491034	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4653498	0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4653826	0.87[JPT][hapmap]
rs4653828	0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4653831	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6690898	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7541775	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7553358	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7555764	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[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
rs10916133	IMAGE3451454	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 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	chr1:227559000-227565800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:227565200-227566000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:227565200-227566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:227565200-227567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:227565400-227566000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:227565400-227566200	Enhancers	Left Ventricle	heart
8	chr1:227565400-227566200	Enhancers	HSMMtube	muscle
9	chr1:227565400-227566400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:227565400-227566800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:227565400-227566800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:227565400-227566800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:227565400-227566800	Enhancers	K562	blood
14	chr1:227565400-227567000	Enhancers	Fetal Heart	heart
15	chr1:227565400-227567200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:227565400-227567200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:227565400-227567400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:227565400-227567400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:227565400-227567400	Enhancers	Psoas Muscle	Psoas
20	chr1:227565400-227567400	Enhancers	Right Atrium	heart
21	chr1:227565400-227567600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:227565600-227567000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:227565600-227567000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:227565600-227567200	Enhancers	HUES6 Cell Line	embryonic stem cell

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