Variant report

Variant	rs10179212
Chromosome Location	chr2:211521922-211521923
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	POLR2A	chr2:211520987-211522069	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:211521745-211521939	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
CPS1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10179039	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184727	1.00[AMR][1000 genomes]
rs10932347	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs11903917	1.00[EUR][1000 genomes]
rs16844589	1.00[EUR][1000 genomes]
rs2371010	1.00[ASW][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56768350	1.00[EUR][1000 genomes]
rs60586565	1.00[EUR][1000 genomes]
rs6732642	1.00[EUR][1000 genomes]
rs6745175	1.00[EUR][1000 genomes]
rs73080189	1.00[EUR][1000 genomes]
rs73984631	1.00[AMR][1000 genomes]
rs73984634	1.00[AMR][1000 genomes]
rs7598012	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211496200-211524800	Strong transcription	Liver	Liver
2	chr2:211498200-211529000	Strong transcription	Hela-S3	cervix
3	chr2:211501000-211540600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:211503200-211523200	Weak transcription	Small Intestine	intestine
5	chr2:211513600-211525200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:211513800-211525400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:211520200-211522600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:211520200-211525400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:211520800-211522800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:211520800-211525200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:211521000-211524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:211521000-211526400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:211521200-211523600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:211521200-211524400	Strong transcription	Fetal Intestine Small	intestine
15	chr2:211521200-211525000	Weak transcription	HepG2	liver
16	chr2:211521200-211525400	Strong transcription	Ovary	ovary
17	chr2:211521200-211526600	Strong transcription	Fetal Intestine Large	intestine
18	chr2:211521400-211524000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:211521600-211522200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:211521800-211523400	Weak transcription	Aorta	Aorta

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