Variant report

Variant	rs72648528
Chromosome Location	chr8:61308774-61308775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61145523..61146919-chr8:61308664..61310037,8	MCF-7	breast:
2	chr8:61304106..61306671-chr8:61306892..61309869,2	K562	blood:
3	chr8:61192430..61196351-chr8:61307974..61311506,6	K562	blood:
4	chr8:61191411..61194665-chr8:61308206..61311022,3	K562	blood:
5	chr8:61181201..61184970-chr8:61306411..61309605,3	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16918852	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16926096	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16926104	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16926111	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16926133	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16926137	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16926155	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16926208	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893273	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1941462	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1989747	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1989748	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2186985	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55831959	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56114656	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57297574	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57459725	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59861870	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60183060	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60991551	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61120651	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6981694	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983084	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72648529	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648531	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648552	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72648553	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648562	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72648567	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648576	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7817790	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7825009	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7825055	0.83[ASN][1000 genomes]
rs7829407	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830976	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922611	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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 target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61302400-61308800	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:61305800-61310000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:61306600-61308800	Weak transcription	Fetal Lung	lung
4	chr8:61308000-61309200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:61308200-61310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:61308400-61309000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:61308400-61309200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:61308400-61309600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:61308400-61309600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:61308600-61309000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:61308600-61309000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:61308600-61309000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:61308600-61309000	Enhancers	Fetal Stomach	stomach
14	chr8:61308600-61309200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:61308600-61309200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:61308600-61309200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:61308600-61309200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:61308600-61309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:61308600-61309400	Enhancers	Rectal Smooth Muscle	rectum
20	chr8:61308600-61309600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:61308600-61309800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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