Variant report

Variant	rs4348366
Chromosome Location	chr7:71870965-71870966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:71870386-71870970	K562	blood:	n/a	chr7:71870568-71870575 chr7:71870568-71870577 chr7:71870567-71870576 chr7:71870568-71870576
2	POLR2A	chr7:71870865-71871546	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71857064..71858979-chr7:71870534..71872385,2	K562	blood:
2	chr7:71870447..71872769-chr7:71875580..71878575,3	K562	blood:

Variant related genes	Relation type
CALN1	TF binding region
ENSG00000183166	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10225544	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10251904	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265973	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10268535	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs10950307	0.82[ASN][1000 genomes]
rs11771673	0.83[JPT][hapmap]
rs1878490	0.83[JPT][hapmap]
rs1914397	0.83[JPT][hapmap]
rs2944787	0.83[JPT][hapmap]
rs2944788	0.83[JPT][hapmap]
rs2944791	0.84[ASN][1000 genomes]
rs2944794	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs2944796	0.84[JPT][hapmap]
rs2944798	0.82[JPT][hapmap]
rs2944830	0.83[JPT][hapmap]
rs2944840	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2968538	0.83[JPT][hapmap]
rs4128154	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4415209	0.87[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62463250	0.92[ASN][1000 genomes]
rs6946889	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs6979389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7778103	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7778594	0.94[ASN][1000 genomes]
rs7779494	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784524	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs7787380	0.84[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9638655	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv464557	chr7:71744896-71935721	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607461	chr7:71744896-71935721	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1029656	chr7:71745055-71935721	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv428170	chr7:71783434-71917539	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71866800-71871600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:71869000-71871600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:71869800-71871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:71870000-71871400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:71870000-71871600	Enhancers	Fetal Brain Male	brain
6	chr7:71870200-71871000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:71870200-71871200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:71870200-71871200	Enhancers	HSMM	muscle
9	chr7:71870200-71871400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:71870200-71871400	Enhancers	Esophagus	oesophagus
11	chr7:71870200-71871600	Enhancers	NHEK	skin
12	chr7:71870400-71871200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:71870400-71871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:71870600-71871200	Enhancers	HSMMtube	muscle
15	chr7:71870800-71871000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:71870800-71871400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:71870800-71871400	Active TSS	Brain Inferior Temporal Lobe	brain

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