Variant report

Variant	rs57404607
Chromosome Location	chr2:173377277-173377278
allele	G/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	KAP1	chr2:173377200-173378061	K562	blood:	n/a	n/a
2	SETDB1	chr2:173376226-173378366	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225205	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1001926	1.00[AFR][1000 genomes]
rs10187564	0.85[EUR][1000 genomes]
rs10207640	0.85[EUR][1000 genomes]
rs10207654	0.85[EUR][1000 genomes]
rs10930559	1.00[EUR][1000 genomes]
rs12052253	0.85[EUR][1000 genomes]
rs12052385	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12053442	1.00[AFR][1000 genomes]
rs12613307	0.82[EUR][1000 genomes]
rs12615584	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12615596	0.82[EUR][1000 genomes]
rs12621278	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12622724	0.82[EUR][1000 genomes]
rs13410475	0.85[EUR][1000 genomes]
rs13414928	0.82[EUR][1000 genomes]
rs1574256	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1574259	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860397	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16860419	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16860426	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16860438	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16860478	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16860513	0.88[EUR][1000 genomes]
rs16860515	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16860634	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16860643	0.85[EUR][1000 genomes]
rs2008518	1.00[AFR][1000 genomes]
rs2178476	1.00[AFR][1000 genomes]
rs2272496	1.00[AFR][1000 genomes]
rs2293645	1.00[EUR][1000 genomes]
rs2293647	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293648	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3762618	0.85[EUR][1000 genomes]
rs4405725	0.82[EUR][1000 genomes]
rs55867175	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56882727	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57244773	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57587465	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59374567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59454075	0.85[EUR][1000 genomes]
rs59476799	0.92[EUR][1000 genomes]
rs59970483	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60096331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6730284	1.00[EUR][1000 genomes]
rs6741759	1.00[EUR][1000 genomes]
rs6743174	0.91[EUR][1000 genomes]
rs9636257	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:173375000-173380800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:173375200-173377600	ZNF genes & repeats	GM12878-XiMat	blood
5	chr2:173375400-173378400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr2:173375400-173378800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr2:173375400-173379200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:173375600-173378400	ZNF genes & repeats	Liver	Liver
9	chr2:173375800-173377600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr2:173376000-173378400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr2:173376000-173378800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr2:173376000-173379000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr2:173376200-173377400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:173376200-173378600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:173376400-173378400	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr2:173376400-173397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:173376800-173377400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr2:173377000-173377400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
19	chr2:173377200-173386000	Weak transcription	Primary T cells from cord blood	blood

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