Variant report

Variant	rs35444703
Chromosome Location	chr2:209236372-209236373
allele	A/G
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	JUND	chr2:209236281-209236614	HepG2	liver:	n/a	chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236470-209236477 chr2:209236469-209236477 chr2:209236468-209236478 chr2:209236467-209236478 chr2:209236469-209236477
2	STAT3	chr2:209236325-209236525	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA1	chr2:209235598-209236383	K562	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
4	ARID3A	chr2:209235877-209236505	K562	blood:	n/a	n/a
5	FOS	chr2:209236368-209236552	MCF10A-Er-Src	breast:	n/a	chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236470-209236477 chr2:209236469-209236477 chr2:209236468-209236478 chr2:209236469-209236477
6	JUN	chr2:209236355-209236555	HepG2	liver:	n/a	chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236470-209236477 chr2:209236469-209236477 chr2:209236468-209236478 chr2:209236469-209236477
7	PBX3	chr2:209236368-209236749	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr2:209236300-209236611	HepG2	liver:	n/a	chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236470-209236477 chr2:209236469-209236477 chr2:209236468-209236478 chr2:209236469-209236477
9	BHLHE40	chr2:209235865-209236444	K562	blood:	n/a	n/a
10	RCOR1	chr2:209235701-209236602	K562	blood:	n/a	n/a
11	GATA1	chr2:209235464-209236411	PBDE	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
12	FOS	chr2:209236324-209236589	MCF10A-Er-Src	breast:	n/a	chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236470-209236477 chr2:209236469-209236477 chr2:209236468-209236478 chr2:209236469-209236477
13	JUND	chr2:209235810-209236563	K562	blood:	n/a	chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236470-209236477 chr2:209236469-209236477 chr2:209236468-209236478 chr2:209236467-209236478 chr2:209236469-209236477

Variant related genes	Relation type
ENSG00000265454	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10181047	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10189412	0.98[EUR][1000 genomes]
rs10189419	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497900	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs11692738	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12617089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12694110	1.00[CEU][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes]
rs13003574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392540	0.82[YRI][hapmap]
rs13394289	0.94[EUR][1000 genomes]
rs28386802	0.99[EUR][1000 genomes]
rs2924790	0.81[CHD][hapmap]
rs4462735	0.88[YRI][hapmap]
rs4673402	1.00[CEU][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs4675762	0.89[EUR][1000 genomes]
rs4675763	0.98[EUR][1000 genomes]
rs4675764	0.97[EUR][1000 genomes]
rs6711995	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6728530	1.00[CEU][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6745659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757231	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67608809	0.89[EUR][1000 genomes]
rs71418683	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7582376	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7582480	0.81[AMR][1000 genomes]
rs7583022	0.88[YRI][hapmap]
rs7586020	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7590641	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv997721	chr2:209228673-209247209	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1006323	chr2:209228673-209247384	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3418149	chr2:209233519-209247345	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459072	chr2:209233567-209247320	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3459073	chr2:209233591-209247266	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3459074	chr2:209233591-209247266	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv9904	chr2:209233686-209247332	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv438381	chr2:209235373-209239742	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	nsv523966	chr2:209235373-209239742	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv3693454	chr2:209235373-209245352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2421431	chr2:209235373-209247221	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35444703	CPS1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209233000-209240200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:209233400-209236600	Enhancers	HepG2	liver
3	chr2:209233800-209236600	Enhancers	NHDF-Ad	bronchial
4	chr2:209234000-209236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:209235200-209236400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:209235200-209236600	Enhancers	K562	blood
7	chr2:209236000-209240200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links