Variant report

Variant	rs4145432
Chromosome Location	chr6:167043542-167043543
allele	C/T
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	CEBPB	chr6:167043041-167043592	IMR90	lung:	n/a	chr6:167043131-167043143 chr6:167043048-167043059
2	ATF1	chr6:167043173-167043565	K562	blood:	n/a	n/a
3	PML	chr6:167043101-167043552	K562	blood:	n/a	n/a
4	TEAD4	chr6:167043081-167043558	K562	blood:	n/a	n/a
5	TEAD4	chr6:167042943-167043646	K562	blood:	n/a	n/a
6	CEBPB	chr6:167043147-167043546	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167042473..167044859-chr6:167051026..167053525,2	MCF-7	breast:
2	chr6:167042665..167045576-chr6:167045886..167047673,3	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1106933	1.00[CEU][hapmap]
rs16899289	0.89[AMR][1000 genomes]
rs2206124	0.89[AMR][1000 genomes]
rs2223407	1.00[ASW][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes]
rs3799568	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58803664	0.89[AMR][1000 genomes]
rs61157638	0.89[AMR][1000 genomes]
rs62438673	0.89[AMR][1000 genomes]
rs873069	1.00[CEU][hapmap];0.86[MEX][hapmap]
rs9348157	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348159	0.82[JPT][hapmap];0.89[AMR][1000 genomes]
rs9348160	0.89[AMR][1000 genomes]
rs9356497	0.93[YRI][hapmap]
rs9356499	0.84[YRI][hapmap];0.89[AMR][1000 genomes]
rs9356500	0.82[JPT][hapmap]
rs9364861	0.89[LWK][hapmap];0.93[YRI][hapmap]
rs9364863	1.00[ASW][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes]
rs9366036	0.82[JPT][hapmap];0.86[AMR][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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167042200-167043800	Enhancers	HSMM	muscle
2	chr6:167042200-167044200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:167042200-167044200	Enhancers	HSMMtube	muscle
4	chr6:167042400-167043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:167042400-167043800	Enhancers	Osteobl	bone
6	chr6:167042600-167043600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr6:167042600-167043600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:167042600-167043800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:167042600-167044000	Weak transcription	Right Atrium	heart
10	chr6:167042600-167044200	Enhancers	NHLF	lung
11	chr6:167042600-167044400	Enhancers	NHDF-Ad	bronchial
12	chr6:167042600-167044600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:167042600-167044600	Enhancers	HUVEC	blood vessel
14	chr6:167042600-167044600	Enhancers	NH-A	brain
15	chr6:167042800-167043800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:167042800-167043800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr6:167042800-167044000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:167042800-167044000	Weak transcription	Spleen	Spleen
19	chr6:167042800-167044200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:167042800-167044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:167042800-167044600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:167042800-167044800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:167042800-167046200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:167042800-167046800	Weak transcription	Psoas Muscle	Psoas
25	chr6:167042800-167049600	Weak transcription	Adipose Nuclei	Adipose
26	chr6:167042800-167050600	Weak transcription	Esophagus	oesophagus
27	chr6:167043000-167048000	Weak transcription	Fetal Brain Female	brain
28	chr6:167043200-167043600	Weak transcription	Fetal Heart	heart
29	chr6:167043400-167043600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:167043400-167043600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr6:167043400-167043800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:167043400-167044600	Enhancers	Left Ventricle	heart
33	chr6:167043400-167044600	Enhancers	Right Ventricle	heart
34	chr6:167043400-167045000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr6:167043400-167045000	Enhancers	Lung	lung
36	chr6:167043400-167045600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:167043400-167058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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