Variant report

Variant	rs2127883
Chromosome Location	chr8:39913359-39913360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:39897663..39901671-chr8:39911802..39914452,3	MCF-7	breast:
2	chr8:39912165..39914251-chr8:39916476..39919468,4	MCF-7	breast:
3	chr8:39912293..39914150-chr8:40011038..40012708,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1383604	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1481051	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1481058	0.90[EUR][1000 genomes]
rs1481059	0.90[EUR][1000 genomes]
rs1481065	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1481066	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1600691	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1842538	0.90[EUR][1000 genomes]
rs1904909	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2170306	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2929091	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2929094	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2929097	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2929100	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2955862	0.91[EUR][1000 genomes]
rs2955923	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2955928	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2955930	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2981133	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2981135	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2981137	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2981139	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2981140	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2981191	0.91[EUR][1000 genomes]
rs2981192	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2981194	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2981195	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010922	0.82[JPT][hapmap]
rs7814008	0.82[ASN][1000 genomes]
rs7824665	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7827065	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7829590	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39907600-39919000	Enhancers	HepG2	liver
2	chr8:39908400-39914000	Enhancers	Fetal Intestine Small	intestine
3	chr8:39910000-39914200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:39911200-39914200	Enhancers	Fetal Intestine Large	intestine
5	chr8:39911400-39913600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:39911400-39914200	Enhancers	Stomach Mucosa	stomach
7	chr8:39911600-39913600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:39911600-39914200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:39911800-39913400	Flanking Active TSS	A549	lung
10	chr8:39911800-39913600	Enhancers	Pancreas	Pancrea
11	chr8:39911800-39913600	Enhancers	Small Intestine	intestine
12	chr8:39911800-39914200	Enhancers	Brain Angular Gyrus	brain
13	chr8:39911800-39914200	Enhancers	Brain Substantia Nigra	brain
14	chr8:39912000-39913400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:39912000-39913400	Enhancers	Aorta	Aorta
16	chr8:39912000-39913600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:39912000-39914200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:39912400-39913400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:39912400-39913400	Enhancers	Fetal Muscle Leg	muscle
20	chr8:39912400-39913400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:39912400-39913400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:39912400-39913800	Enhancers	Brain Anterior Caudate	brain
23	chr8:39912600-39913600	Enhancers	Colonic Mucosa	Colon
24	chr8:39912600-39913800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:39912600-39914000	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:39912600-39914200	Enhancers	Brain Hippocampus Middle	brain
27	chr8:39912800-39917200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:39912800-39917400	Weak transcription	NHLF	lung
29	chr8:39912800-39917600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:39912800-39919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:39913000-39913600	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:39913000-39914000	Weak transcription	Fetal Kidney	kidney
33	chr8:39913000-39914200	Enhancers	Liver	Liver
34	chr8:39913000-39916400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:39913000-39916400	Weak transcription	Esophagus	oesophagus
36	chr8:39913000-39917000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:39913000-39939000	Weak transcription	Right Atrium	heart
38	chr8:39913200-39914000	Enhancers	Hela-S3	cervix
39	chr8:39913200-39916400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:39913200-39916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:39913200-39916400	Weak transcription	Lung	lung
42	chr8:39913200-39916800	Weak transcription	Fetal Lung	lung

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