Variant report

Variant	rs856114
Chromosome Location	chr1:158898814-158898815
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	PBX3	chr1:158898610-158898901	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:158898707-158898854	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr1:158898680-158898867	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
PYHIN1	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1102018	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2260107	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2427820	0.81[EUR][1000 genomes]
rs2427822	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2494075	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2511204	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2518515	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2518517	0.81[EUR][1000 genomes]
rs2518519	0.81[EUR][1000 genomes]
rs2518534	0.81[EUR][1000 genomes]
rs2518543	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2518544	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2518545	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2518546	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2518547	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2518548	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2518549	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2518550	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2518551	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2518552	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2793850	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2793852	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2793853	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2793854	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2820126	0.83[EUR][1000 genomes]
rs2820147	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2820148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2820149	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2820150	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs2820151	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2820152	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2820153	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2820154	0.81[EUR][1000 genomes]
rs2820156	0.81[EUR][1000 genomes]
rs2820157	0.81[EUR][1000 genomes]
rs2820162	0.81[EUR][1000 genomes]
rs2820167	0.81[EUR][1000 genomes]
rs2820191	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2820192	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2820194	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2820195	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2852652	0.81[EUR][1000 genomes]
rs2852656	1.00[JPT][hapmap]
rs2852662	0.81[EUR][1000 genomes]
rs2852663	0.81[EUR][1000 genomes]
rs2852664	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2852665	0.81[EUR][1000 genomes]
rs2852666	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2852667	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2852687	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2852688	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2852703	0.81[EUR][1000 genomes]
rs2852704	0.81[EUR][1000 genomes]
rs2852710	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs2852711	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2852712	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4338350	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7419186	0.81[EUR][1000 genomes]
rs856096	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs856103	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs856104	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs856105	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs856107	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs856108	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs856109	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs856112	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs856115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856116	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856117	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]
rs856118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856119	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856123	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs856151	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs860636	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002401	chr1:158712627-158972031	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv872484	chr1:158863845-158909164	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv872485	chr1:158863845-158922287	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1007597	chr1:158874806-158934301	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv946442	chr1:158886760-158899487	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158897400-158899000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:158898200-158900200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:158898600-158900400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:158898800-158899800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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