Variant report

Variant	rs806188
Chromosome Location	chr7:127268806-127268807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127263721..127265916-chr7:127266954..127269452,2	K562	blood:
2	chr7:127267563..127269525-chr7:127276624..127278504,2	K562	blood:
3	chr7:127234222..127236612-chr7:127266615..127269535,2	MCF-7	breast:
4	chr7:127268675..127271053-chr7:127289533..127291398,3	MCF-7	breast:
5	chr7:127267628..127269404-chr7:127274222..127276014,2	K562	blood:
6	chr7:127263721..127266239-chr7:127267229..127270331,3	K562	blood:

Variant related genes	Relation type
ENSG00000106328	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11772303	0.81[AMR][1000 genomes]
rs12540484	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12667197	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17151229	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2402871	0.82[AMR][1000 genomes]
rs2582717	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs327510	0.90[CHB][hapmap]
rs327512	0.90[CHB][hapmap]
rs327516	0.91[CHB][hapmap]
rs3757778	0.81[AMR][1000 genomes]
rs4731377	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56185520	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62481385	0.80[ASN][1000 genomes]
rs698406	0.95[CHB][hapmap]
rs698408	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712697	0.95[CHB][hapmap]
rs712700	0.95[CHB][hapmap]
rs712701	0.95[CHB][hapmap]
rs712703	0.95[CHB][hapmap]
rs712704	0.95[CHB][hapmap]
rs712707	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs712715	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs712718	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs712719	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs806166	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806169	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806172	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806174	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806175	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs806180	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs806193	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127261000-127269600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:127268200-127269800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:127268600-127269000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:127268800-127269400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:127268800-127269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:127268800-127269600	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:127268800-127269800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:127268800-127269800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:127268800-127269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:127268800-127269800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:127268800-127269800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:127268800-127269800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:127268800-127272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:127268800-127272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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