Variant report

Variant	rs12250658
Chromosome Location	chr10:51512617-51512618
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11003820	1.00[AMR][1000 genomes]
rs11004361	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11004455	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246321	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247763	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914420	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56301424	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59436713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60528425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131182	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv895381	chr10:51094660-51515534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv895383	chr10:51260747-51724915	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv895382	chr10:51330433-51515534	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1048474	chr10:51330433-51545872	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1796295	chr10:51371074-51521245	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1806057	chr10:51371074-51521245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1821612	chr10:51371074-51521245	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1825752	chr10:51371074-51521245	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1844388	chr10:51371074-51521245	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv427864	chr10:51371074-51521245	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv508583	chr10:51385007-51595892	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51505400-51513800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:51505400-51515200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr10:51507000-51514600	Weak transcription	Thymus	Thymus
4	chr10:51507200-51513600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:51507200-51513600	Weak transcription	Dnd41	blood
6	chr10:51507200-51513800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:51507200-51515000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:51507200-51517600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:51507600-51515200	Weak transcription	Primary B cells from cord blood	blood
10	chr10:51508600-51513800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr10:51510600-51513000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:51511000-51517800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:51511800-51514600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:51511800-51514600	Weak transcription	HepG2	liver
15	chr10:51512200-51514400	Weak transcription	Fetal Thymus	thymus
16	chr10:51512600-51514200	Weak transcription	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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