Variant report

Variant	rs9974513
Chromosome Location	chr21:45099998-45099999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45091437..45093703-chr21:45099864..45102476,3	K562	blood:
2	chr21:45098409..45101229-chr21:45121225..45123505,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1041454	0.81[AFR][1000 genomes]
rs1041455	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911865	1.00[EUR][1000 genomes]
rs12165286	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329600	1.00[EUR][1000 genomes]
rs28405975	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4383428	0.94[AFR][1000 genomes]
rs61737067	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs718470	1.00[EUR][1000 genomes]
rs73369437	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369447	0.80[AFR][1000 genomes]
rs73369454	0.80[AFR][1000 genomes]
rs73908376	1.00[EUR][1000 genomes]
rs8133686	0.83[AFR][1000 genomes]
rs9974851	0.83[AFR][1000 genomes]
rs9977102	0.83[AFR][1000 genomes]
rs9977212	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978403	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978934	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9979935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9984720	0.81[AFR][1000 genomes]
rs9984724	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1066728	chr21:45089877-45131723	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
3	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
4	chr21:45082000-45101800	Weak transcription	Fetal Kidney	kidney
5	chr21:45082000-45107200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr21:45082800-45116600	Strong transcription	Primary T cells from cord blood	blood
7	chr21:45086000-45117200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:45086400-45110600	Weak transcription	Stomach Mucosa	stomach
9	chr21:45088400-45117200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:45088600-45116400	Strong transcription	Dnd41	blood
11	chr21:45088600-45117000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr21:45088800-45118200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:45089000-45117000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:45089200-45101400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:45089200-45115000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:45089200-45116000	Strong transcription	Fetal Thymus	thymus
19	chr21:45089200-45116200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr21:45089200-45117000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr21:45089200-45117200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr21:45089400-45116600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr21:45089600-45116400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:45089600-45116400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr21:45089800-45100000	Strong transcription	Adipose Nuclei	Adipose
26	chr21:45089800-45107200	Strong transcription	Fetal Muscle Leg	muscle
27	chr21:45089800-45107800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr21:45089800-45108000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr21:45089800-45117000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr21:45089800-45117200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr21:45090000-45107800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:45090400-45106600	Strong transcription	HSMM	muscle
33	chr21:45093800-45112200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr21:45093800-45117000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:45094000-45117600	Strong transcription	Fetal Intestine Small	intestine
36	chr21:45094200-45116200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:45094600-45114600	Strong transcription	Brain Substantia Nigra	brain
38	chr21:45094600-45116200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr21:45094600-45116600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:45094600-45117200	Strong transcription	Fetal Stomach	stomach
41	chr21:45094800-45107800	Strong transcription	Thymus	Thymus
42	chr21:45094800-45116400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr21:45094800-45117200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr21:45094800-45122000	Weak transcription	Right Atrium	heart
45	chr21:45095000-45115000	Strong transcription	Fetal Brain Female	brain
46	chr21:45095200-45116400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr21:45095400-45117000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:45096800-45104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:45097000-45102000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr21:45097200-45100400	Weak transcription	Lung	lung

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