Variant report

Variant	rs4714782
Chromosome Location	chr6:44317682-44317683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44239400..44241869-chr6:44317599..44319704,2	K562	blood:
2	chr6:44310393..44312128-chr6:44317079..44318862,2	K562	blood:
3	chr6:44315264..44318217-chr6:44339899..44341797,2	K562	blood:

Variant related genes	Relation type
ENSG00000272442	Chromatin interaction
ENSG00000249481	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10948134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1122627	1.00[YRI][hapmap]
rs11755211	0.98[EUR][1000 genomes]
rs13214191	0.94[CEU][hapmap]
rs13220856	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1571774	0.98[EUR][1000 genomes]
rs1609726	0.94[EUR][1000 genomes]
rs16871772	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1909887	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1971329	0.97[EUR][1000 genomes]
rs2065361	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2221224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2396239	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711780	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4714783	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6911823	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935417	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7738562	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7760813	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769100	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7772720	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883193	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs883194	0.93[EUR][1000 genomes]
rs9349282	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349283	0.83[CEU][hapmap]
rs9381313	0.94[EUR][1000 genomes]
rs9381315	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9472263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs950230	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44317400-44317800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:44317400-44318600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:44317600-44318000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:44317600-44318000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:44317600-44318200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:44317600-44318200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:44317600-44318200	Enhancers	HMEC	breast
8	chr6:44317600-44318400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:44317600-44318600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:44317600-44318600	Enhancers	Liver	Liver

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