Variant report

Variant	rs4921664
Chromosome Location	chr8:19518908-19518909
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	chr8:19517559..19519398-chr8:19521074..19523001,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4628268	0.81[CHD][hapmap]
rs7828491	0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4921664	NAT1	cis	cerebellum	SCAN
rs4921664	ATP6V1B2	cis	cerebellum	SCAN
rs4921664	PIWIL2	cis	cerebellum	SCAN
rs4921664	SLC39A14	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19500400-19519600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:19503400-19521000	Weak transcription	Pancreas	Pancrea
4	chr8:19508400-19519800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:19509200-19519800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:19510600-19520600	Weak transcription	Fetal Brain Male	brain
7	chr8:19511200-19521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:19511600-19519800	Weak transcription	Fetal Stomach	stomach
9	chr8:19512000-19520400	Weak transcription	NH-A	brain
10	chr8:19512200-19520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:19512200-19522400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:19512400-19521000	Weak transcription	Aorta	Aorta
13	chr8:19514400-19519400	Weak transcription	Primary T cells from cord blood	blood
14	chr8:19514400-19519800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:19515200-19520000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:19515200-19523000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:19515400-19519600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:19516600-19525000	Enhancers	Placenta	Placenta
19	chr8:19516800-19519000	Genic enhancers	A549	lung
20	chr8:19517200-19519800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:19517400-19520200	Weak transcription	Esophagus	oesophagus
22	chr8:19517600-19520200	Weak transcription	Osteobl	bone
23	chr8:19518000-19519200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:19518000-19522200	Enhancers	HepG2	liver
25	chr8:19518200-19520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:19518200-19521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:19518200-19524000	Enhancers	NHEK	skin
28	chr8:19518200-19524200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:19518400-19519600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:19518400-19520000	Weak transcription	NHDF-Ad	bronchial
31	chr8:19518400-19520600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:19518600-19519000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:19518600-19519200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:19518600-19519200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:19518600-19519200	Enhancers	Right Atrium	heart
36	chr8:19518600-19519400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:19518600-19519800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:19518600-19524000	Enhancers	HMEC	breast
39	chr8:19518800-19519000	Enhancers	Left Ventricle	heart
40	chr8:19518800-19519000	Enhancers	Lung	lung
41	chr8:19518800-19519000	Flanking Active TSS	Hela-S3	cervix
42	chr8:19518800-19519200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:19518800-19519600	Enhancers	Right Ventricle	heart
44	chr8:19518800-19519800	Genic enhancers	Primary B cells from cord blood	blood
45	chr8:19518800-19521000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:19518800-19521200	Enhancers	Primary B cells from peripheral blood	blood

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