Variant report

Variant	rs808599
Chromosome Location	chr6:4864879-4864880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4857248..4859696-chr6:4863230..4865110,2	K562	blood:
2	chr6:4864258..4867257-chr6:4869047..4871548,2	K562	blood:
3	chr6:4857248..4860930-chr6:4863042..4865412,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11967088	1.00[ASN][1000 genomes]
rs1630478	1.00[ASN][1000 genomes]
rs6933949	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6938896	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73348359	1.00[ASN][1000 genomes]
rs73348363	1.00[ASN][1000 genomes]
rs7758083	1.00[JPT][hapmap]
rs7761022	1.00[ASN][1000 genomes]
rs7769900	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7771142	1.00[ASN][1000 genomes]
rs7771355	1.00[ASN][1000 genomes]
rs808590	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808592	0.85[AFR][1000 genomes]
rs808594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808597	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808618	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808620	0.82[YRI][hapmap]
rs808625	1.00[ASN][1000 genomes]
rs808626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs809471	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:4849200-4865400	Weak transcription	Aorta	Aorta
3	chr6:4849800-4868000	Weak transcription	Hela-S3	cervix
4	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:4854600-4871200	Weak transcription	NH-A	brain
7	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
8	chr6:4856800-4865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:4859000-4876600	Weak transcription	Ovary	ovary
12	chr6:4859200-4867800	Weak transcription	A549	lung
13	chr6:4859600-4870200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:4859600-4870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:4859600-4871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:4859800-4865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:4859800-4870800	Weak transcription	NHEK	skin
18	chr6:4859800-4871000	Weak transcription	HMEC	breast
19	chr6:4859800-4871200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:4860200-4870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:4861800-4871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:4861800-4872000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:4862200-4871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:4862400-4872000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:4862600-4865400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:4863000-4865000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:4863000-4865200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr6:4863000-4865600	ZNF genes & repeats	GM12878-XiMat	blood
29	chr6:4863400-4868200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:4863600-4865400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:4864000-4865400	Genic enhancers	K562	blood
32	chr6:4864400-4865800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:4864400-4867600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:4864800-4865200	Enhancers	Placenta	Placenta

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