Variant report

Variant	rs2669437
Chromosome Location	chr8:105452530-105452531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr8:105452480-105452815	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr8:105452487-105452854	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:105452430-105452592	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105451721..105454182-chr8:105487552..105489510,2	K562	blood:
2	chr8:105452203..105454182-chr8:105488010..105490562,2	K562	blood:

Variant related genes	Relation type
ENSG00000266734	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2246815	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2250601	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2254738	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2669426	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2669431	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2669433	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2669434	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2669435	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2669436	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2669438	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28410924	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2853167	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2853168	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2853174	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2853175	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2853176	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2853178	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7001837	0.86[EUR][1000 genomes]
rs7821992	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105450200-105454400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:105450400-105452800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:105450400-105453200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:105450400-105454400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:105450600-105453200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:105450600-105454400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:105450600-105454400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:105450600-105458800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:105450800-105454400	Weak transcription	Adipose Nuclei	Adipose
10	chr8:105451000-105453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:105451000-105453200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:105451200-105452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:105451200-105453200	Weak transcription	Placenta	Placenta
14	chr8:105451200-105453200	Weak transcription	NHLF	lung
15	chr8:105451400-105452600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:105452000-105452600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:105452000-105459000	Strong transcription	Liver	Liver
18	chr8:105452200-105452800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:105452400-105452600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:105452400-105452800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:105452400-105452800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:105452400-105454200	Enhancers	NHDF-Ad	bronchial

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