Variant report

Variant	rs6719334
Chromosome Location	chr2:145092545-145092546
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145091353..145093709-chr2:145104378..145106961,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10183682	0.85[AFR][1000 genomes]
rs10194389	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10194888	0.96[AFR][1000 genomes]
rs11884223	0.81[YRI][hapmap]
rs13411155	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13412436	1.00[YRI][hapmap]
rs13415613	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs13422361	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs13426801	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs28590276	0.93[AFR][1000 genomes]
rs28825442	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6430053	0.84[YRI][hapmap]
rs6717975	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7559941	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7562623	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7571365	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7574640	0.87[AFR][1000 genomes]
rs7594866	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7597335	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7604808	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv1004937	chr2:145079535-145159021	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145090600-145096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145090800-145093200	Weak transcription	Fetal Kidney	kidney
3	chr2:145090800-145094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:145090800-145102800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:145090800-145103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:145090800-145106400	Weak transcription	Fetal Stomach	stomach
7	chr2:145091000-145094200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:145091000-145095800	Weak transcription	NHEK	skin
9	chr2:145091000-145096400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:145091200-145093600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:145091400-145103600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:145091600-145092600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:145091600-145103800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:145091600-145105600	Weak transcription	Fetal Heart	heart
15	chr2:145091800-145092600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:145091800-145092800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:145091800-145095800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:145091800-145096400	Weak transcription	Brain Substantia Nigra	brain
19	chr2:145092200-145092600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:145092400-145092600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:145092400-145092800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:145092400-145093000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:145092400-145095800	Weak transcription	K562	blood
24	chr2:145092400-145101400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:145092400-145102600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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