Variant report

Variant	rs704535
Chromosome Location	chr3:23436397-23436398
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	NFIC	chr3:23436266-23436956	GM12878	blood:	n/a	n/a
2	RUNX3	chr3:23436354-23437014	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23436371..23438292-chr3:23438375..23440407,2	MCF-7	breast:
2	chr3:23429124..23431176-chr3:23435283..23438143,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228171	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1692619	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1692621	0.84[EUR][1000 genomes]
rs1695180	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1695205	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1874234	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1874502	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1874503	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1994953	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2036044	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2047339	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2101811	0.81[EUR][1000 genomes]
rs2132144	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2173057	0.98[EUR][1000 genomes]
rs2359754	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3104242	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858068	0.96[EUR][1000 genomes]
rs4858070	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4858489	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4858490	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4858495	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4858499	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4858507	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5023615	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6550758	0.86[EUR][1000 genomes]
rs6550759	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6550760	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6765758	0.95[EUR][1000 genomes]
rs6780388	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6790327	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6799132	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6801824	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73138453	0.95[EUR][1000 genomes]
rs7621680	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7637485	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643705	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7653868	0.85[EUR][1000 genomes]
rs778457	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs778458	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs778463	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs778469	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs778483	0.82[EUR][1000 genomes]
rs778492	0.96[EUR][1000 genomes]
rs778497	0.92[EUR][1000 genomes]
rs778502	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs778525	0.83[EUR][1000 genomes]
rs778527	0.81[EUR][1000 genomes]
rs931609	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9757330	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9758590	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9815299	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9823684	0.82[EUR][1000 genomes]
rs9840808	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9841336	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9848389	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9849679	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9863465	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9875910	0.81[EUR][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	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv876624	chr3:23385877-23483536	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv876625	chr3:23390301-23509597	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1012236	chr3:23408427-23469063	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1010032	chr3:23408985-23469063	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23427000-23445000	Weak transcription	Right Ventricle	heart
2	chr3:23429800-23445400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:23431400-23436400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:23431400-23447800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:23432000-23438000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:23432200-23452600	Weak transcription	Aorta	Aorta
7	chr3:23433800-23459600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:23434000-23438000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr3:23434400-23440800	Weak transcription	Right Atrium	heart
10	chr3:23434400-23444000	Weak transcription	Primary B cells from cord blood	blood
11	chr3:23435000-23448200	Weak transcription	Psoas Muscle	Psoas
12	chr3:23435600-23436400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:23435800-23436800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:23435800-23440000	Weak transcription	Brain Substantia Nigra	brain
15	chr3:23436000-23436600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:23436000-23436600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:23436000-23436600	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:23436200-23436400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:23436200-23436600	Enhancers	GM12878-XiMat	blood
20	chr3:23436200-23436800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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