Variant report

Variant	rs991724
Chromosome Location	chr2:210011962-210011963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10164549	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202412	0.85[CHB][hapmap];0.88[CHD][hapmap]
rs10205036	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1030960	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12999691	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13016106	0.84[JPT][hapmap]
rs13390342	0.86[ASN][1000 genomes]
rs13391946	0.85[AFR][1000 genomes]
rs13392114	0.85[AFR][1000 genomes]
rs13395229	0.85[AFR][1000 genomes]
rs13405413	0.85[AFR][1000 genomes]
rs13425205	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425311	0.86[ASN][1000 genomes]
rs1371437	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043916	0.85[AFR][1000 genomes]
rs2043917	0.85[AFR][1000 genomes]
rs28593633	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34521318	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3890028	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66489564	0.85[AFR][1000 genomes]
rs6718580	0.85[AFR][1000 genomes]
rs6730973	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs67945528	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7560902	0.85[AFR][1000 genomes]
rs7587994	0.85[AFR][1000 genomes]
rs7602855	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs876853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002578	chr2:209836205-210026339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv536132	chr2:209836205-210026339	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv584307	chr2:209966941-210024938	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv875762	chr2:209992353-210036655	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1010749	chr2:209999344-210026471	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv875763	chr2:210000582-210036655	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs991724	ZDBF2	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210003400-210012000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:210006200-210025400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:210009800-210012400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:210010000-210012200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:210010400-210012000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:210010400-210012000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:210010400-210012200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:210010400-210013200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:210010800-210012200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:210011000-210012000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:210011000-210012000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:210011000-210012200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:210011000-210012400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:210011000-210013000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:210011200-210012400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:210011600-210012000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:210011800-210013200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:210011800-210013200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:210011800-210021400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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