Variant report

Variant	rs4710031
Chromosome Location	chr6:166658553-166658554
allele	A/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	EP300	chr6:166657876-166658786	GM12878	blood:	n/a	chr6:166658211-166658225 chr6:166658060-166658074

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166657165..166659175-chr6:166659836..166662538,2	K562	blood:
2	chr6:166657950..166660698-chr6:166853746..166856485,2	K562	blood:

Variant related genes	Relation type
GNG5P1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10946142	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12524797	0.82[ASN][1000 genomes]
rs4710030	0.95[ASN][1000 genomes]
rs6909545	0.83[ASN][1000 genomes]
rs6931334	0.81[ASN][1000 genomes]
rs932592	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9348099	0.83[ASN][1000 genomes]
rs9348102	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9348105	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356450	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9356457	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9364836	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9365974	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[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	nsv1029993	chr6:166621852-166695791	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538537	chr6:166621852-166695791	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166654400-166659000	Enhancers	Fetal Thymus	thymus
2	chr6:166655200-166666400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:166657200-166658600	Flanking Active TSS	Dnd41	blood
4	chr6:166657200-166658800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:166657400-166658800	Flanking Active TSS	GM12878-XiMat	blood
6	chr6:166657400-166659000	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:166657600-166658800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr6:166657600-166658800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:166657800-166658600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr6:166657800-166658600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr6:166657800-166658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:166657800-166658800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:166657800-166658800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:166658000-166658800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr6:166658200-166658600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:166658200-166658800	Bivalent Enhancer	HepG2	liver
17	chr6:166658200-166659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:166658200-166659200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:166658200-166659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:166658400-166658800	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:166658400-166658800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:166658400-166658800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:166658400-166658800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:166658400-166658800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr6:166658400-166658800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:166658400-166658800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:166658400-166658800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:166658400-166658800	Enhancers	Thymus	Thymus
29	chr6:166658400-166659200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:166658400-166659600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:166658400-166666400	Weak transcription	Monocytes-CD14+_RO01746	blood

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