Variant report

Variant	rs17004585
Chromosome Location	chr21:45020668-45020669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45019163..45020714-chr21:45029148..45031854,2	K562	blood:
2	chr21:45015801..45017430-chr21:45020275..45022626,2	MCF-7	breast:
3	chr21:45009791..45011592-chr21:45019130..45020686,2	MCF-7	breast:
4	chr21:45018445..45020726-chr21:45029673..45031600,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10427514	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs10483077	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10483078	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11089065	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11089090	1.00[YRI][hapmap]
rs11908919	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909530	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909813	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909916	0.83[AMR][1000 genomes]
rs11909999	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910220	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910351	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910352	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11911293	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs11911483	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11911735	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911856	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12106371	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12106423	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12106466	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12626631	0.85[YRI][hapmap]
rs13339951	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004507	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004580	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004581	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004582	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004586	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004587	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004589	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004590	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004592	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004593	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004594	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004595	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004596	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs28431406	0.83[AMR][1000 genomes]
rs28782771	0.83[AMR][1000 genomes]
rs28852206	0.83[AMR][1000 genomes]
rs59298188	0.85[AMR][1000 genomes]
rs7283618	0.87[AFR][1000 genomes]
rs9917493	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
3	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:45013200-45022200	Weak transcription	Adipose Nuclei	Adipose
5	chr21:45013800-45025000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr21:45016200-45021800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:45016200-45025000	Enhancers	HMEC	breast
8	chr21:45016400-45020800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:45016400-45021800	Enhancers	NH-A	brain
10	chr21:45016400-45022600	Enhancers	NHLF	lung
11	chr21:45016400-45024200	Enhancers	HSMM	muscle
12	chr21:45016400-45024400	Enhancers	Osteobl	bone
13	chr21:45016400-45026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:45017200-45024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:45017200-45029000	Weak transcription	Fetal Intestine Small	intestine
16	chr21:45017600-45024200	Enhancers	NHEK	skin
17	chr21:45017800-45021800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:45018000-45024400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:45018400-45020800	Enhancers	HSMMtube	muscle
20	chr21:45018400-45024600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:45018600-45022200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:45019000-45021000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:45019000-45023400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:45019000-45024400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr21:45019000-45026600	Enhancers	Fetal Thymus	thymus
26	chr21:45019200-45022600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr21:45019200-45023600	Weak transcription	Fetal Stomach	stomach
28	chr21:45019800-45021600	Enhancers	Hela-S3	cervix
29	chr21:45019800-45022000	Enhancers	NHDF-Ad	bronchial
30	chr21:45020000-45021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:45020000-45024600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:45020200-45020800	Enhancers	A549	lung
33	chr21:45020200-45021200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:45020200-45021800	Weak transcription	Thymus	Thymus
35	chr21:45020200-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:45020400-45021200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:45020400-45028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:45020600-45020800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:45020600-45021200	Enhancers	Fetal Muscle Leg	muscle
40	chr21:45020600-45022200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr21:45020600-45024400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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