Variant report

Variant	rs2036101
Chromosome Location	chr1:152217443-152217444
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	STAT3	chr1:152217204-152217457	MCF10A-Er-Src	breast:	n/a	chr1:152217313-152217322 chr1:152217312-152217321
2	JUND	chr1:152217440-152217470	K562	blood:	n/a	n/a
3	JUND	chr1:152217136-152217677	Hela-S3	cervix:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217502-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
4	POLR2A	chr1:152217233-152217464	K562	blood:	n/a	n/a
5	JUND	chr1:152217318-152217680	HepG2	liver:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217502-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
6	FOS	chr1:152217070-152217741	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
7	FOS	chr1:152217127-152217647	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
8	JUND	chr1:152217174-152217854	SK-N-SH	brain:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217502-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
9	GATA3	chr1:152217233-152217681	SK-N-SH	brain:	n/a	chr1:152217502-152217511
10	STAT3	chr1:152217197-152217508	MCF10A-Er-Src	breast:	n/a	chr1:152217313-152217322 chr1:152217312-152217321
11	FOS	chr1:152217087-152217636	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
12	FOS	chr1:152217108-152217656	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152214610..152216817-chr1:152217355..152219873,2	K562	blood:

Variant related genes	Relation type
FLG-AS1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10749672	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10788829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10888469	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10888474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1466758	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1532400	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1858481	0.83[ASW][hapmap]
rs3120648	0.89[AFR][1000 genomes]
rs3120657	0.83[AFR][1000 genomes]
rs3120658	0.83[AFR][1000 genomes]
rs3126057	0.87[AFR][1000 genomes]
rs3126064	0.87[AFR][1000 genomes]
rs3126065	0.88[ASW][hapmap]
rs3126087	0.83[ASW][hapmap]
rs3134871	0.83[ASW][hapmap]
rs3134872	0.88[ASW][hapmap]
rs4333850	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4548447	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845735	0.83[AMR][1000 genomes]
rs4845738	0.83[AMR][1000 genomes]
rs6587648	0.83[AMR][1000 genomes]
rs6587649	0.83[AMR][1000 genomes]
rs6587653	0.83[AMR][1000 genomes]
rs6587655	1.00[ASW][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520132	0.83[AMR][1000 genomes]
rs7523354	0.81[LWK][hapmap];0.91[MKK][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes]
rs7533656	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550091	0.89[AFR][1000 genomes];1.00[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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv947506	chr1:152203216-152223222	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv159214	chr1:152213931-152223706	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152216600-152218000	Enhancers	NHEK	skin
2	chr1:152216600-152218200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152216600-152218600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:152217000-152217600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:152217000-152217600	Enhancers	HMEC	breast
6	chr1:152217000-152217800	Enhancers	NHDF-Ad	bronchial
7	chr1:152217000-152217800	Enhancers	Osteobl	bone
8	chr1:152217000-152218600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:152217400-152217600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:152217400-152218000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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