Variant report

Variant	rs28813130
Chromosome Location	chr19:40162485-40162486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39988198..39988763-chr19:40162454..40163227,2	MCF-7	breast:
2	chr19:40041783..40042891-chr19:40162333..40163330,4	K562	blood:
3	chr19:40041871..40042653-chr19:40162390..40162892,2	MCF-7	breast:
4	chr19:39988438..39989161-chr19:40162366..40162932,2	K562	blood:
5	chr19:40041798..40042719-chr19:40162291..40163385,9	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10401497	0.83[AMR][1000 genomes]
rs10403702	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407793	0.83[AMR][1000 genomes]
rs10410370	0.83[AMR][1000 genomes]
rs10415701	0.83[AMR][1000 genomes]
rs10415895	0.83[AMR][1000 genomes]
rs10416827	1.00[EUR][1000 genomes]
rs10418622	1.00[EUR][1000 genomes]
rs10419752	0.83[AMR][1000 genomes]
rs10425882	1.00[EUR][1000 genomes]
rs10426738	0.83[AMR][1000 genomes]
rs10427144	1.00[EUR][1000 genomes]
rs16973535	1.00[EUR][1000 genomes]
rs1860133	1.00[EUR][1000 genomes]
rs58247839	1.00[EUR][1000 genomes]
rs58824692	1.00[EUR][1000 genomes]
rs59933428	1.00[EUR][1000 genomes]
rs7248592	1.00[EUR][1000 genomes]
rs73555856	1.00[EUR][1000 genomes]
rs73555858	1.00[EUR][1000 genomes]
rs73555863	1.00[EUR][1000 genomes]
rs8109558	1.00[EUR][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	nsv1062653	chr19:40123868-40163241	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv2482	chr19:40125797-40170766	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3413868	chr19:40130700-40184720	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv3355956	chr19:40135051-40188792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv3998	chr19:40135120-40188646	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv3397881	chr19:40150495-40199437	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv963047	chr19:40151942-40168890	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40161200-40162600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr19:40161200-40162600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr19:40161200-40162600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr19:40161200-40162600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:40161200-40162800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr19:40161200-40162800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr19:40161200-40162800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr19:40161200-40162800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr19:40161400-40162600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr19:40161400-40162800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr19:40162400-40162600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:40162400-40162600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr19:40162400-40162600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:40162400-40162600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:40162400-40162600	Enhancers	Brain Hippocampus Middle	brain
16	chr19:40162400-40162800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr19:40162400-40163200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr19:40162400-40163200	Enhancers	GM12878-XiMat	blood
19	chr19:40162400-40164600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:40162400-40164600	Enhancers	Primary T helper cells PMA-I stimulated	--

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