Variant report

Variant	rs4957782
Chromosome Location	chr5:108021870-108021871
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	chr5:108021801..108024411-chr5:108062186..108064628,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272523	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13179785	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1396443	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1472917	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1472918	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2048212	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2174973	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2174974	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4478364	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4587121	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6887824	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7445987	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7712018	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1024076	chr5:107991426-108028223	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 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	chr5:108007000-108034800	Weak transcription	Right Atrium	heart
2	chr5:108017400-108022000	Weak transcription	Brain Angular Gyrus	brain
3	chr5:108017600-108023600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:108017600-108023600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:108018200-108023000	Weak transcription	GM12878-XiMat	blood
6	chr5:108020800-108022200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:108021000-108022000	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:108021000-108022000	Enhancers	Stomach Mucosa	stomach
9	chr5:108021000-108024000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:108021200-108022000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:108021200-108022000	Enhancers	Placenta	Placenta
12	chr5:108021200-108022000	Flanking Active TSS	HepG2	liver
13	chr5:108021200-108022200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:108021200-108022200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:108021200-108022200	Enhancers	Brain Germinal Matrix	brain
16	chr5:108021200-108022400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:108021200-108022600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:108021200-108022600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:108021200-108023000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:108021200-108024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:108021200-108024600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:108021400-108022200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:108021400-108023000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:108021400-108024000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:108021400-108024200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:108021600-108022000	Active TSS	Colonic Mucosa	Colon
27	chr5:108021600-108022000	Enhancers	Gastric	stomach
28	chr5:108021600-108022000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr5:108021600-108022000	Enhancers	HMEC	breast
30	chr5:108021600-108022200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:108021600-108022200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:108021600-108022200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:108021600-108024000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:108021800-108022000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:108021800-108022000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:108021800-108022000	Flanking Active TSS	Esophagus	oesophagus
37	chr5:108021800-108022000	Enhancers	Pancreas	Pancrea
38	chr5:108021800-108022400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr5:108021800-108023600	Weak transcription	Osteobl	bone
40	chr5:108021800-108024000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:108021800-108024000	Enhancers	Fetal Brain Male	brain
42	chr5:108021800-108024200	Enhancers	HUES64 Cell Line	embryonic stem cell

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