Variant report

Variant	rs6930429
Chromosome Location	chr6:144355674-144355675
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	chr6:144355605-144355903	K562	blood:	n/a	chr6:144355746-144355759 chr6:144355747-144355758 chr6:144355746-144355757
2	CEBPB	chr6:144355592-144355919	HepG2	liver:	n/a	chr6:144355746-144355759 chr6:144355747-144355758 chr6:144355746-144355757

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144355070..144357503-chr6:144413513..144415682,2	K562	blood:

Variant related genes	Relation type
ENSG00000217231	TF binding region

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

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

rs_ID	r²[population]
rs11754802	0.90[JPT][hapmap]
rs11756126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11760032	0.83[ASN][1000 genomes]
rs12525521	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12529969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073300	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073312	0.93[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs17616841	1.00[CEU][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2143151	0.90[EUR][1000 genomes]
rs2144571	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921460	0.85[MEX][hapmap]
rs6923789	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7752731	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7773278	0.85[ASN][1000 genomes]
rs9496845	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144351000-144357400	Weak transcription	Fetal Kidney	kidney
2	chr6:144353600-144357400	Weak transcription	Right Atrium	heart
3	chr6:144354600-144357000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:144355000-144357400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:144355200-144355800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:144355200-144355800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:144355200-144355800	Flanking Active TSS	NHDF-Ad	bronchial
8	chr6:144355200-144356200	Enhancers	Osteobl	bone
9	chr6:144355200-144356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:144355200-144357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:144355200-144357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:144355200-144357200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:144355400-144355800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:144355400-144355800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:144355400-144355800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:144355400-144356200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:144355400-144357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:144355400-144357200	Weak transcription	NHLF	lung
19	chr6:144355600-144356000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:144355600-144356000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr6:144355600-144356800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:144355600-144356800	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:144355600-144356800	Weak transcription	Placenta	Placenta
24	chr6:144355600-144357000	Weak transcription	Adipose Nuclei	Adipose
25	chr6:144355600-144357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:144355600-144357200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:144355600-144357200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:144355600-144357400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:144355600-144357400	Weak transcription	Aorta	Aorta
30	chr6:144355600-144359800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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