Variant report

Variant	rs9498574
Chromosome Location	chr6:101839842-101839843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101839704..101841744-chr6:101842658..101845506,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1415946	1.00[JPT][hapmap]
rs1475916	1.00[JPT][hapmap]
rs2518226	1.00[JPT][hapmap]
rs2518228	1.00[JPT][hapmap]
rs2518231	1.00[JPT][hapmap]
rs2518234	1.00[JPT][hapmap]
rs2518235	1.00[JPT][hapmap]
rs2518238	1.00[JPT][hapmap]
rs2518249	1.00[JPT][hapmap]
rs2579933	1.00[JPT][hapmap]
rs2579934	1.00[JPT][hapmap]
rs2788276	1.00[JPT][hapmap]
rs2852508	1.00[JPT][hapmap]
rs2852532	1.00[JPT][hapmap]
rs3811080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419493	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv515487	chr6:101831312-101840009	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101839400-101840200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:101839400-101840200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:101839400-101840200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:101839400-101840200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:101839400-101840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:101839600-101840000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:101839600-101840000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:101839600-101840000	Bivalent Enhancer	Brain Hippocampus Middle	brain
9	chr6:101839600-101840000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:101839600-101840000	Bivalent Enhancer	Brain Substantia Nigra	brain
11	chr6:101839600-101840200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
12	chr6:101839600-101840400	Bivalent Enhancer	Brain Germinal Matrix	brain
13	chr6:101839600-101840800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr6:101839600-101840800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr6:101839600-101841000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:101839600-101842200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:101839600-101842200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:101839600-101842200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:101839600-101842400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:101839600-101842400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:101839800-101840000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:101839800-101840000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:101839800-101840200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr6:101839800-101840200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:101839800-101840600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr6:101839800-101841000	Bivalent Enhancer	Placenta	Placenta
27	chr6:101839800-101841000	Weak transcription	Gastric	stomach
28	chr6:101839800-101842200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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