Variant report

Variant	rs4653592
Chromosome Location	chr1:224866588-224866589
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224840003..224842948-chr1:224864305..224866677,2	MCF-7	breast:
2	chr1:224859647..224863135-chr1:224864370..224868600,5	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10429870	0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10799277	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10799590	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10915684	0.95[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915687	0.85[ASN][1000 genomes]
rs10915694	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs10915696	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10915698	0.84[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915699	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10915704	1.00[YRI][hapmap]
rs12025142	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12092438	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12121558	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs12124262	1.00[CEU][hapmap]
rs12130499	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12132665	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13374487	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs1369847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436169	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1436171	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1436172	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs1465768	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1603917	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1603918	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs169888	0.96[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1965777	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2405516	0.85[CHB][hapmap];0.88[ASN][1000 genomes]
rs2405525	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2648746	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2897161	0.94[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2936575	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298732	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298733	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298734	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298735	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298738	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs298739	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2993124	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3012185	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4147293	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4653402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4653404	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653591	0.87[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56881651	0.81[EUR][1000 genomes]
rs61676104	0.80[EUR][1000 genomes]
rs6667034	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6686604	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6686633	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67817586	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs713098	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7511897	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7521396	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7535296	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7537973	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7542431	0.84[EUR][1000 genomes]
rs7542995	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs7543218	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7544312	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7545574	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs873594	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224832800-224869000	Weak transcription	Dnd41	blood
3	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:224857200-224869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224857200-224869200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:224858400-224871800	Weak transcription	NHLF	lung
7	chr1:224858400-224874200	Weak transcription	NH-A	brain
8	chr1:224859600-224871400	Weak transcription	NHDF-Ad	bronchial
9	chr1:224861200-224876800	Weak transcription	Ovary	ovary
10	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
11	chr1:224862800-224869400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:224864000-224876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:224864600-224869000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:224864600-224871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:224864800-224869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:224864800-224869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:224865600-224867800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:224865800-224867800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:224866400-224868400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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