Variant report

Variant	rs1357601
Chromosome Location	chr2:168277723-168277724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168276375..168278559-chr2:168283313..168285075,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10198766	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803824	0.86[ASN][1000 genomes]
rs10803825	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930270	0.83[ASN][1000 genomes]
rs10930271	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1357600	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357605	0.84[ASN][1000 genomes]
rs1357606	0.84[ASN][1000 genomes]
rs1357607	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1403891	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1403892	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1403893	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403895	0.86[ASN][1000 genomes]
rs1403896	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1403897	0.83[ASN][1000 genomes]
rs1403899	0.83[ASN][1000 genomes]
rs1403903	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1478384	0.83[ASN][1000 genomes]
rs1523881	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523886	1.00[EUR][1000 genomes]
rs1523887	1.00[EUR][1000 genomes]
rs1523888	0.86[ASN][1000 genomes]
rs1523889	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1568747	0.83[ASN][1000 genomes]
rs1608519	0.83[ASN][1000 genomes]
rs1608520	0.83[ASN][1000 genomes]
rs1880171	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1916744	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1916745	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916748	0.83[ASN][1000 genomes]
rs1916749	0.83[ASN][1000 genomes]
rs1916750	0.83[ASN][1000 genomes]
rs1916751	0.83[ASN][1000 genomes]
rs2030655	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030656	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030657	0.86[ASN][1000 genomes]
rs2091100	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2140499	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2140500	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2177442	0.83[ASN][1000 genomes]
rs2204278	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2222504	0.86[ASN][1000 genomes]
rs2263240	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617379	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617380	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617381	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617383	0.84[ASN][1000 genomes]
rs2617386	0.83[ASN][1000 genomes]
rs2617388	0.83[ASN][1000 genomes]
rs2689820	0.83[ASN][1000 genomes]
rs2689832	0.83[ASN][1000 genomes]
rs2689833	0.83[ASN][1000 genomes]
rs2689843	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689844	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2689845	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689846	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689847	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689848	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689849	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2689850	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2689851	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2689853	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2689854	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2689855	1.00[EUR][1000 genomes]
rs2927602	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949010	0.83[ASN][1000 genomes]
rs4130760	1.00[EUR][1000 genomes]
rs4363998	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59534092	1.00[EUR][1000 genomes]
rs6704984	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6725171	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6729570	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747382	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756322	0.86[ASN][1000 genomes]
rs6756997	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6759323	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6759384	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73972270	0.86[EUR][1000 genomes]
rs73972274	1.00[EUR][1000 genomes]
rs998015	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2760556	chr2:168259049-168283244	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168263600-168278200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168273200-168278000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:168273200-168279000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:168273400-168278200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:168274400-168278200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:168275000-168278400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:168275200-168277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:168275800-168279400	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:168277000-168279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:168277200-168279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:168277400-168278600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:168277600-168278600	Enhancers	HUES64 Cell Line	embryonic stem cell

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