Variant report

Variant	rs60713157
Chromosome Location	chr3:178800349-178800350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178785014..178787957-chr3:178798169..178800614,2	K562	blood:
2	chr3:178788571..178792772-chr3:178798622..178801975,4	MCF-7	breast:
3	chr3:178796359..178801213-chr3:178863522..178868106,6	K562	blood:
4	chr3:178786314..178787957-chr3:178799114..178802010,2	K562	blood:

Variant related genes	Relation type
ENSG00000172667	Chromatin interaction
ENSG00000229102	Chromatin interaction
ENSG00000121879	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12486399	0.84[EUR][1000 genomes]
rs12497857	0.88[EUR][1000 genomes]
rs1517585	0.83[EUR][1000 genomes]
rs2865084	0.84[EUR][1000 genomes]
rs4854940	0.83[EUR][1000 genomes]
rs4854976	0.84[EUR][1000 genomes]
rs4855094	0.83[EUR][1000 genomes]
rs61404287	0.88[EUR][1000 genomes]
rs61796464	0.83[EUR][1000 genomes]
rs61796465	0.81[EUR][1000 genomes]
rs61796466	0.83[EUR][1000 genomes]
rs61796467	0.83[EUR][1000 genomes]
rs61798205	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61798206	1.00[EUR][1000 genomes]
rs61798207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61798211	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61798213	0.88[EUR][1000 genomes]
rs6443623	0.84[EUR][1000 genomes]
rs6791215	0.88[EUR][1000 genomes]
rs6804195	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73051979	0.83[EUR][1000 genomes]
rs7374077	0.84[EUR][1000 genomes]
rs7615259	0.84[EUR][1000 genomes]
rs9758036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9860843	0.81[EUR][1000 genomes]
rs9878005	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178790000-178806200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:178792800-178801600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:178793400-178800600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:178799200-178802400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:178799200-178802800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:178799200-178803000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:178799200-178803000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:178799400-178802400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:178799400-178802800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:178799600-178800600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:178799600-178801200	Enhancers	NHEK	skin
12	chr3:178799600-178801600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:178799800-178801000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:178800000-178800400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr3:178800000-178802000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr3:178800200-178800400	Enhancers	Osteobl	bone
17	chr3:178800200-178802000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:178800200-178803000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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