Variant report

Variant	rs73159657
Chromosome Location	chr3:142891214-142891215
allele	C/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	SETDB1	chr3:142891094-142892872	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142889368..142891930-chr3:142894381..142895952,2	K562	blood:
2	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:

Variant related genes	Relation type
PBX2P1	TF binding region
ENSG00000244171	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10049327	0.85[ASN][1000 genomes]
rs16853100	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572584	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17572766	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779211	0.82[AFR][1000 genomes]
rs73159645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73159646	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159647	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159648	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159650	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159652	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159655	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159656	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS 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	24 gene(s)	inside rSNPs	diseases
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142882000-142891600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:142884000-142891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:142886800-142891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:142887600-142891400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:142887800-142891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:142887800-142891800	Enhancers	Primary B cells from cord blood	blood
7	chr3:142888200-142891400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:142888200-142891800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:142888600-142891600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr3:142888600-142891800	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:142889000-142891400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:142889000-142891400	Enhancers	NH-A	brain
13	chr3:142889000-142891400	Enhancers	Osteobl	bone
14	chr3:142889000-142891600	Enhancers	Fetal Kidney	kidney
15	chr3:142889000-142891800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:142889200-142891600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:142889200-142891600	Enhancers	Fetal Muscle Leg	muscle
18	chr3:142889200-142891800	Enhancers	Fetal Stomach	stomach
19	chr3:142889200-142891800	Enhancers	NHLF	lung
20	chr3:142889600-142891400	Enhancers	NHDF-Ad	bronchial
21	chr3:142889600-142891600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr3:142889600-142891800	Flanking Active TSS	Fetal Thymus	thymus
23	chr3:142889800-142892000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr3:142890000-142891400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:142890000-142891600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:142890000-142892000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:142890200-142891400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:142890200-142891600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:142890200-142891800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:142890200-142892000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr3:142890400-142892000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr3:142890600-142891800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:142890600-142892000	Flanking Active TSS	Dnd41	blood
36	chr3:142890800-142891600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr3:142890800-142891800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr3:142891000-142891400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr3:142891000-142891800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:142891000-142891800	Flanking Active TSS	Fetal Lung	lung
41	chr3:142891000-142891800	Flanking Active TSS	Thymus	Thymus
42	chr3:142891000-142893400	ZNF genes & repeats	GM12878-XiMat	blood
43	chr3:142891200-142891400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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