Variant report

Variant	rs4871818
Chromosome Location	chr8:120978976-120978977
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	chr8:120978380..120980894-chr8:120986076..120988850,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10088028	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10093746	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10095508	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10095955	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10098796	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101222	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10102102	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10102329	1.00[ASN][1000 genomes]
rs10109920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10111725	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10113019	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13439791	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2139432	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28393075	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28436011	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28447970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28449953	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28570063	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28589493	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28673002	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28678910	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28701610	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4871029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4871774	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4871792	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7006490	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72673603	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72673616	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72673617	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72673691	1.00[ASN][1000 genomes]
rs72690149	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7824041	1.00[ASN][1000 genomes]
rs9297610	1.00[ASN][1000 genomes]
rs9656933	1.00[ASN][1000 genomes]
rs9987078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9987272	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][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	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120968800-120981800	Weak transcription	Stomach Mucosa	stomach
2	chr8:120968800-120987800	Weak transcription	Placenta	Placenta
3	chr8:120968800-120988800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:120970800-120980200	Weak transcription	Psoas Muscle	Psoas
5	chr8:120976000-120986000	Weak transcription	Thymus	Thymus
6	chr8:120976800-120984400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:120977200-120979400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr8:120977200-120979600	Strong transcription	Stomach Smooth Muscle	stomach
9	chr8:120977200-120981000	Strong transcription	Fetal Muscle Leg	muscle
10	chr8:120977200-120981000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:120977200-120981400	Strong transcription	Fetal Intestine Large	intestine
12	chr8:120977200-120984200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:120977200-120984800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:120977400-120979200	Strong transcription	Brain Substantia Nigra	brain
15	chr8:120977400-120979200	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:120977400-120979200	Strong transcription	Rectal Smooth Muscle	rectum
17	chr8:120977400-120979400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr8:120977400-120979400	Strong transcription	Left Ventricle	heart
19	chr8:120977400-120980400	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:120977400-120980800	Strong transcription	Ovary	ovary
21	chr8:120977400-120981200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:120977400-120982200	Strong transcription	Brain Hippocampus Middle	brain
23	chr8:120977400-120984400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:120977800-120980800	Weak transcription	Lung	lung
25	chr8:120977800-120981200	Strong transcription	Liver	Liver
26	chr8:120977800-120981400	Strong transcription	Fetal Stomach	stomach
27	chr8:120977800-120985800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
29	chr8:120978000-120979000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:120978000-120979600	Strong transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:120978000-120979800	Strong transcription	Adipose Nuclei	Adipose
32	chr8:120978000-120980400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr8:120978000-120981000	Strong transcription	Fetal Intestine Small	intestine
34	chr8:120978000-120981000	Weak transcription	Osteobl	bone
35	chr8:120978000-120981400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:120978000-120984600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:120978000-120985600	Weak transcription	Brain Germinal Matrix	brain
38	chr8:120978000-120985600	Weak transcription	Spleen	Spleen
39	chr8:120978000-120986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
41	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
42	chr8:120978000-121013600	Weak transcription	Gastric	stomach
43	chr8:120978200-120979600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr8:120978200-120982600	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:120978200-120983000	Weak transcription	Colonic Mucosa	Colon
46	chr8:120978200-120984600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:120978400-120985600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:120978400-120993200	Weak transcription	Primary T cells from cord blood	blood
49	chr8:120978400-120993200	Weak transcription	Brain Anterior Caudate	brain
50	chr8:120978600-120983600	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links