Variant report

Variant	rs10168933
Chromosome Location	chr2:209057517-209057518
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	FOSL2	chr2:209057368-209057659	MCF-7	breast:	n/a	n/a
2	GATA3	chr2:209057313-209057838	MCF-7	breast:	n/a	n/a
3	GATA3	chr2:209057333-209057834	MCF-7	breast:	n/a	n/a
4	STAT1	chr2:209057303-209058285	Hela-S3	cervix:	n/a	chr2:209057816-209057827
5	ZNF217	chr2:209057353-209057652	MCF-7	breast:	n/a	n/a
6	HA-E2F1	chr2:209056981-209057828	MCF-7	breast:	n/a	n/a
7	MAX	chr2:209057254-209057704	MCF-7	breast:	n/a	chr2:209057447-209057462
8	MYC	chr2:209057414-209057519	GM12878	blood:	n/a	chr2:209057447-209057462
9	TCF7L2	chr2:209057282-209057800	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
C2orf80	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10932247	1.00[ASN][1000 genomes]
rs10932248	1.00[ASN][1000 genomes]
rs10932249	1.00[ASN][1000 genomes]
rs10932250	1.00[ASN][1000 genomes]
rs10932251	1.00[ASN][1000 genomes]
rs12373811	1.00[CHB][hapmap]
rs13027625	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13402685	1.00[ASN][1000 genomes]
rs13430046	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16840683	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2028878	1.00[ASN][1000 genomes]
rs2197565	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4675738	1.00[CHB][hapmap]
rs55839325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55917261	1.00[EUR][1000 genomes]
rs6435429	1.00[CHB][hapmap]
rs6711758	1.00[CHB][hapmap]
rs6714981	1.00[CHB][hapmap]
rs6740421	1.00[CHB][hapmap]
rs6743514	1.00[CHB][hapmap]
rs6755619	1.00[CHB][hapmap]
rs73986538	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	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
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	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
6	nsv584299	chr2:209021232-209067051	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv875749	chr2:209022909-209062388	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv875750	chr2:209022909-209069303	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv869592	chr2:209029861-209060862	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2763083	chr2:209033581-209058397	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875751	chr2:209042963-209110784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv522180	chr2:209052303-209062388	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv274878	chr2:209054297-209058385	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209040000-209064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209055000-209061000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:209055800-209064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:209056000-209057600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:209056600-209058600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:209057000-209057600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:209057200-209057600	Enhancers	Esophagus	oesophagus
8	chr2:209057200-209057800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:209057200-209057800	Enhancers	HMEC	breast
10	chr2:209057200-209058200	Enhancers	NHEK	skin
11	chr2:209057200-209058400	Enhancers	Stomach Mucosa	stomach
12	chr2:209057400-209057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:209057400-209057800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:209057400-209058200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:209057400-209058200	Enhancers	Ovary	ovary

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