Variant report

Variant	rs4714028
Chromosome Location	chr6:36955888-36955889
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:
2	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
3	chr6:36953616..36955180-chr6:36955668..36958158,2	K562	blood:
4	chr6:36852278..36855515-chr6:36952430..36957026,4	MCF-7	breast:
5	chr6:36852138..36856054-chr6:36953606..36956862,5	K562	blood:
6	chr6:36889896..36892689-chr6:36954303..36956712,2	MCF-7	breast:
7	chr6:36724390..36726745-chr6:36953555..36956553,2	K562	blood:
8	chr6:36929829..36933522-chr6:36953197..36956380,5	MCF-7	breast:
9	chr6:36954231..36957100-chr6:36969352..36972549,3	K562	blood:
10	chr6:36954227..36956971-chr6:36992385..36994779,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164530	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000146192	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12524747	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12524778	0.96[CEU][hapmap];0.91[GIH][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12525363	0.81[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1318961	0.81[CEU][hapmap]
rs13193265	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs13217627	0.91[CEU][hapmap]
rs1554721	0.87[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs1570116	0.96[CEU][hapmap];0.91[GIH][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16889364	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1753284	0.81[CEU][hapmap]
rs1753286	0.81[CEU][hapmap]
rs2770123	0.80[CEU][hapmap]
rs4711478	0.87[ASN][1000 genomes]
rs4714030	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62406531	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6915109	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6915207	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6919808	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7739340	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7739958	0.92[CEU][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs7743783	0.96[CEU][hapmap];0.91[GIH][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7744277	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7762333	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831477	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4714028	PI16	cis	cerebellum	SCAN
rs4714028	ZFAND3	cis	parietal	SCAN
rs4714028	PI16	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36955200-36956000	Enhancers	Colon Smooth Muscle	Colon
2	chr6:36955200-36956200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:36955200-36956600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:36955200-36956800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:36955200-36959200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:36955400-36956000	Enhancers	Fetal Heart	heart
7	chr6:36955400-36957000	Weak transcription	Hela-S3	cervix
8	chr6:36955400-36965200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:36955400-36965400	Weak transcription	Right Atrium	heart
10	chr6:36955800-36957000	Weak transcription	K562	blood

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