Variant report

Variant	rs1397764
Chromosome Location	chr3:141750810-141750811
allele	A/G
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	SPI1	chr3:141750644-141751175	HL-60	blood:	n/a	n/a
2	SPI1	chr3:141750647-141751073	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141748723..141752115-chr3:141753472..141758138,4	MCF-7	breast:

Variant related genes	Relation type
TFDP2	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10935453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11569198	0.83[CHB][hapmap]
rs11706480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11714792	0.83[ASN][1000 genomes]
rs12496412	0.99[ASN][1000 genomes]
rs13065446	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1355438	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1511299	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1543064	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1704985	0.87[EUR][1000 genomes]
rs1705607	0.87[EUR][1000 genomes]
rs1705614	0.86[EUR][1000 genomes]
rs1705624	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1820941	0.80[ASN][1000 genomes]
rs2063453	0.83[CHB][hapmap]
rs2063454	0.83[CHB][hapmap]
rs2271386	0.83[CHB][hapmap]
rs2861422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2862125	0.98[ASN][1000 genomes]
rs34186890	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34392664	0.97[ASN][1000 genomes]
rs347685	0.87[EUR][1000 genomes]
rs347686	0.87[EUR][1000 genomes]
rs347692	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3817176	0.83[CHB][hapmap]
rs4683658	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62283130	0.80[EUR][1000 genomes]
rs6440057	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440060	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6773343	0.94[CEU][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs6778085	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs6781340	0.97[ASN][1000 genomes]
rs6791514	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6794342	0.88[ASN][1000 genomes]
rs6795301	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs72990266	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7619506	0.82[CHB][hapmap]
rs7630893	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7644155	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7644383	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289641	0.82[JPT][hapmap]
rs963396	0.83[CHB][hapmap]
rs9848817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9857917	0.85[EUR][1000 genomes]
rs9865413	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9865777	0.82[JPT][hapmap]
rs9877536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9877817	0.94[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs9942075	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv877553	chr3:141732321-141786073	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv877554	chr3:141735532-141781890	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv877555	chr3:141740076-141791408	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr3:141747600-141751600	Weak transcription	HSMM	muscle
2	chr3:141747600-141752200	Weak transcription	Fetal Intestine Large	intestine
3	chr3:141747600-141752400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:141747600-141762600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:141747600-141762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:141747600-141773000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:141747600-141780400	Weak transcription	Left Ventricle	heart
8	chr3:141748200-141753800	Weak transcription	Fetal Thymus	thymus
9	chr3:141748200-141754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:141748200-141755200	Weak transcription	Aorta	Aorta
11	chr3:141748800-141758400	Weak transcription	Thymus	Thymus
12	chr3:141749000-141752200	Weak transcription	K562	blood
13	chr3:141750200-141751400	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:141750400-141751000	Enhancers	Primary B cells from cord blood	blood
15	chr3:141750600-141751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:141750600-141751200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:141750600-141751400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:141750800-141751200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr3:141750800-141751400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:141750800-141751400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:141750800-141752400	Enhancers	Dnd41	blood

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