Variant report

Variant	rs9982658
Chromosome Location	chr21:45087127-45087128
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44775127..44777356-chr21:45085128..45087430,2	MCF-7	breast:
2	chr21:45085920..45088210-chr21:45131139..45133231,2	MCF-7	breast:
3	chr21:45085964..45087716-chr21:45092086..45095034,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11911865	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12329926	0.87[AFR][1000 genomes]
rs2838346	0.89[AFR][1000 genomes]
rs2838347	0.87[AFR][1000 genomes]
rs2838349	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3746952	1.00[JPT][hapmap]
rs718470	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9974343	0.87[AFR][1000 genomes]
rs9977028	0.87[AFR][1000 genomes]
rs9984711	0.93[AFR][1000 genomes];0.93[AMR][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	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	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
4	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
5	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080200-45089800	Weak transcription	Aorta	Aorta
2	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45080800-45089200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45080800-45089400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:45080800-45092000	Weak transcription	Esophagus	oesophagus
6	chr21:45080800-45094600	Weak transcription	NHLF	lung
7	chr21:45080800-45094800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:45080800-45094800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:45080800-45096200	Weak transcription	Psoas Muscle	Psoas
10	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
11	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
12	chr21:45081000-45089800	Weak transcription	NH-A	brain
13	chr21:45081200-45089200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr21:45081200-45096400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr21:45081400-45089800	Weak transcription	NHDF-Ad	bronchial
16	chr21:45081600-45087200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:45081600-45087600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:45081600-45093800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:45081800-45087200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:45081800-45087400	Strong transcription	Fetal Thymus	thymus
21	chr21:45081800-45087600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:45082000-45101800	Weak transcription	Fetal Kidney	kidney
23	chr21:45082000-45107200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr21:45082200-45087400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr21:45082400-45089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:45082400-45089800	Weak transcription	Left Ventricle	heart
27	chr21:45082400-45097200	Weak transcription	Fetal Brain Male	brain
28	chr21:45082600-45089400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr21:45082800-45089800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr21:45082800-45096200	Weak transcription	Colonic Mucosa	Colon
31	chr21:45082800-45116600	Strong transcription	Primary T cells from cord blood	blood
32	chr21:45083400-45089800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr21:45083400-45089800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr21:45084000-45087600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr21:45084000-45087800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:45084200-45087600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr21:45084400-45087200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:45084400-45087200	Weak transcription	HMEC	breast
39	chr21:45084400-45087400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr21:45084400-45087400	Strong transcription	Thymus	Thymus
41	chr21:45084400-45087600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr21:45084600-45087400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr21:45084600-45090400	Weak transcription	HSMM	muscle
44	chr21:45085000-45087200	Strong transcription	Primary B cells from cord blood	blood
45	chr21:45085000-45089800	Weak transcription	Brain Anterior Caudate	brain
46	chr21:45085000-45089800	Weak transcription	Brain Substantia Nigra	brain
47	chr21:45085000-45090200	Weak transcription	HSMMtube	muscle
48	chr21:45085200-45089800	Weak transcription	Brain Angular Gyrus	brain
49	chr21:45085200-45089800	Weak transcription	Brain Hippocampus Middle	brain
50	chr21:45085200-45089800	Weak transcription	Brain Inferior Temporal Lobe	brain

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