Variant report

Variant	rs62413423
Chromosome Location	chr6:80328496-80328497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80328128..80332092-chr6:80333019..80336682,5	K562	blood:
2	chr6:80326571..80329193-chr6:80384659..80386738,2	MCF-7	breast:
3	chr6:80319015..80321979-chr6:80327268..80328969,2	MCF-7	breast:
4	chr6:80323999..80326540-chr6:80327735..80331287,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12178357	0.92[ASN][1000 genomes]
rs16890789	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16890805	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16890832	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16890833	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2134854	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411327	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411328	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411329	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411333	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411355	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411357	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62411359	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62413361	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62413365	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62413367	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62413369	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413373	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413374	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413375	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413378	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413379	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413381	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413383	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413386	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413394	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413400	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413402	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413403	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62413404	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413406	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413407	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413408	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413409	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62413411	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413412	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62413418	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413420	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80315000-80340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:80318000-80340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:80320800-80338600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:80322400-80330600	Enhancers	HepG2	liver
5	chr6:80322600-80340000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:80322800-80340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:80323200-80330400	Enhancers	Liver	Liver
8	chr6:80324800-80332000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:80325000-80331800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:80325200-80329600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:80325200-80331400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:80325400-80330800	Weak transcription	K562	blood
13	chr6:80326600-80338200	Weak transcription	Stomach Mucosa	stomach
14	chr6:80326600-80339000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:80327600-80331600	Weak transcription	Fetal Intestine Large	intestine

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