Variant report

Variant	rs62192772
Chromosome Location	chr2:208903994-208903995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:208880392..208882988-chr2:208902103..208904120,2	MCF-7	breast:
2	chr2:208899128..208901283-chr2:208902115..208904520,2	K562	blood:
3	chr2:208626670..208629623-chr2:208902352..208904027,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10192860	0.85[EUR][1000 genomes]
rs10497895	0.91[EUR][1000 genomes]
rs10932224	0.93[EUR][1000 genomes]
rs12464255	0.91[EUR][1000 genomes]
rs12465052	0.91[EUR][1000 genomes]
rs12465292	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12470702	0.91[EUR][1000 genomes]
rs12471242	0.82[AMR][1000 genomes]
rs13428099	0.84[EUR][1000 genomes]
rs13431014	0.81[EUR][1000 genomes]
rs1452521	0.82[AMR][1000 genomes]
rs16840403	0.91[EUR][1000 genomes]
rs17459574	0.82[AMR][1000 genomes]
rs17459758	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17538061	0.92[EUR][1000 genomes]
rs17538138	0.88[EUR][1000 genomes]
rs2362787	0.93[EUR][1000 genomes]
rs28463196	0.87[EUR][1000 genomes]
rs57709782	0.91[EUR][1000 genomes]
rs60335988	0.91[EUR][1000 genomes]
rs62190863	0.82[AMR][1000 genomes]
rs62190896	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62190898	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62190900	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62190904	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62190905	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62192773	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62192790	0.91[EUR][1000 genomes]
rs62192791	0.91[EUR][1000 genomes]
rs62192812	0.87[EUR][1000 genomes]
rs62192814	0.88[EUR][1000 genomes]
rs62192815	0.88[EUR][1000 genomes]
rs62192816	0.88[EUR][1000 genomes]
rs62192818	0.87[EUR][1000 genomes]
rs6435402	0.87[EUR][1000 genomes]
rs6740362	0.87[EUR][1000 genomes]
rs72969822	0.82[AMR][1000 genomes]
rs72981543	0.95[EUR][1000 genomes]
rs72984907	0.88[EUR][1000 genomes]
rs72984917	0.87[EUR][1000 genomes]
rs72984926	0.88[EUR][1000 genomes]
rs72984930	0.87[EUR][1000 genomes]
rs72984932	0.87[EUR][1000 genomes]
rs7565251	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7588162	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs930745	0.82[AMR][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	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	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	17 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208891000-208904200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:208891000-208905400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:208896600-208907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:208899000-208912000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:208899800-208906600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:208900200-208904200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:208902600-208906000	Enhancers	HepG2	liver
8	chr2:208903000-208904600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:208903200-208904400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:208903600-208904000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:208903600-208904000	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:208903600-208904600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:208903600-208905600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:208903600-208905600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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