Variant report

Variant	rs13422361
Chromosome Location	chr2:145074572-145074573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145072980..145076311-chr2:145078832..145082653,3	K562	blood:
2	chr2:145072968..145075581-chr2:145088599..145092803,3	K562	blood:
3	chr2:145061040..145062540-chr2:145073838..145076401,2	K562	blood:
4	chr2:145069604..145072384-chr2:145073110..145075636,2	K562	blood:
5	chr2:145072968..145075900-chr2:145087325..145092803,5	K562	blood:
6	chr2:145072509..145075356-chr2:145076813..145079504,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121964	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10183682	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194389	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194888	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11884223	0.81[YRI][hapmap]
rs13411155	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412245	0.83[AMR][1000 genomes]
rs13412436	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415613	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs13426801	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28590276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28825442	0.84[AFR][1000 genomes]
rs6430053	0.82[YRI][hapmap]
rs6717975	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719334	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs7559941	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7562623	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571365	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574640	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594866	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs7597335	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7604808	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145059600-145078000	Weak transcription	Left Ventricle	heart
2	chr2:145064000-145077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145068600-145078000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:145069000-145077800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:145069000-145077800	Weak transcription	Aorta	Aorta
6	chr2:145069000-145078000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:145069000-145082000	Weak transcription	Fetal Heart	heart
8	chr2:145070400-145077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:145070400-145077800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:145070400-145078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:145070400-145078000	Weak transcription	HSMM	muscle
12	chr2:145070800-145077600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:145070800-145077800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:145070800-145078000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:145070800-145088000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:145071000-145077800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:145071000-145078000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:145071000-145078200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:145071800-145076000	Weak transcription	Fetal Brain Female	brain
20	chr2:145072400-145078000	Weak transcription	NHLF	lung
21	chr2:145073400-145074800	Weak transcription	Fetal Brain Male	brain
22	chr2:145074000-145077800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:145074200-145078200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:145074200-145081400	Weak transcription	Primary B cells from cord blood	blood

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