Variant report

Variant	rs62526534
Chromosome Location	chr8:103932487-103932488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:103932194-103932513	GM12878	blood:	n/a	n/a
2	BATF	chr8:103932181-103932571	GM12878	blood:	n/a	n/a
3	YY1	chr8:103932401-103932919	GM12878	blood:	n/a	n/a
4	YY1	chr8:103932472-103932682	K562	blood:	n/a	n/a
5	EP300	chr8:103932168-103932677	GM12878	blood:	n/a	n/a
6	RUNX3	chr8:103932135-103932564	GM12878	blood:	n/a	n/a
7	WRNIP1	chr8:103932216-103932604	GM12878	blood:	n/a	n/a
8	YY1	chr8:103932447-103932858	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103931524..103933304-chr8:104018085..104019856,2	K562	blood:
2	chr8:103875028..103877482-chr8:103931087..103934755,3	MCF-7	breast:
3	chr8:103926652..103929593-chr8:103930931..103933539,2	K562	blood:
4	chr8:103874124..103877156-chr8:103929505..103932868,5	K562	blood:
5	chr8:103874124..103876322-chr8:103930861..103932524,2	K562	blood:
6	chr8:103874643..103877584-chr8:103931125..103934060,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1019975	0.85[EUR][1000 genomes]
rs10505040	0.96[ASN][1000 genomes]
rs12544232	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546193	0.86[EUR][1000 genomes]
rs12546479	0.83[AMR][1000 genomes]
rs12546634	0.85[EUR][1000 genomes]
rs12546960	0.83[AMR][1000 genomes]
rs12547200	0.85[EUR][1000 genomes]
rs12547652	0.83[AMR][1000 genomes]
rs12548786	0.86[EUR][1000 genomes]
rs12549011	0.83[AMR][1000 genomes]
rs12549073	0.83[AMR][1000 genomes]
rs12550185	0.82[AMR][1000 genomes]
rs13123	0.85[EUR][1000 genomes]
rs17197341	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17197736	0.83[AMR][1000 genomes]
rs17198079	0.88[AMR][1000 genomes]
rs17775450	0.85[EUR][1000 genomes]
rs17775510	0.85[EUR][1000 genomes]
rs2137339	0.83[AMR][1000 genomes]
rs2304348	0.85[EUR][1000 genomes]
rs2304349	0.85[EUR][1000 genomes]
rs2388369	0.83[AMR][1000 genomes]
rs2388370	0.83[AMR][1000 genomes]
rs28542883	0.83[ASN][1000 genomes]
rs4734670	0.84[EUR][1000 genomes]
rs4734672	0.85[EUR][1000 genomes]
rs4734673	0.83[AMR][1000 genomes]
rs4734674	0.83[AMR][1000 genomes]
rs4734676	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734678	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56854051	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62522574	0.86[EUR][1000 genomes]
rs62522599	0.83[EUR][1000 genomes]
rs62522602	0.85[EUR][1000 genomes]
rs62522603	0.85[EUR][1000 genomes]
rs62522615	0.83[AMR][1000 genomes]
rs62522616	0.83[AMR][1000 genomes]
rs62522617	0.83[AMR][1000 genomes]
rs62522618	0.83[AMR][1000 genomes]
rs62522619	0.83[AMR][1000 genomes]
rs62522620	0.83[AMR][1000 genomes]
rs62522621	0.83[AMR][1000 genomes]
rs62522622	0.83[AMR][1000 genomes]
rs62522623	0.81[AMR][1000 genomes]
rs62522624	0.83[AMR][1000 genomes]
rs62522626	0.83[AMR][1000 genomes]
rs62526529	0.83[AMR][1000 genomes]
rs62526533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526538	0.96[ASN][1000 genomes]
rs62526539	0.96[ASN][1000 genomes]
rs6468846	0.96[ASN][1000 genomes]
rs6998032	0.96[ASN][1000 genomes]
rs6999267	0.85[EUR][1000 genomes]
rs6999525	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016840	0.83[ASN][1000 genomes]
rs7821657	0.83[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
2	chr8:103926000-103932600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:103926400-103932600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:103926400-103937400	Weak transcription	Lung	lung
5	chr8:103926600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:103926800-103932600	Weak transcription	NHDF-Ad	bronchial
7	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103928800-103933400	Enhancers	A549	lung
10	chr8:103929200-103933600	Enhancers	Fetal Heart	heart
11	chr8:103929200-103934800	Enhancers	Liver	Liver
12	chr8:103929400-103933000	Enhancers	Pancreas	Pancrea
13	chr8:103929400-103934600	Enhancers	Adipose Nuclei	Adipose
14	chr8:103929600-103934600	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:103929800-103932600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:103929800-103932800	Enhancers	Brain Anterior Caudate	brain
17	chr8:103929800-103933000	Enhancers	Fetal Brain Male	brain
18	chr8:103929800-103934200	Enhancers	Hela-S3	cervix
19	chr8:103930000-103938000	Weak transcription	Gastric	stomach
20	chr8:103930200-103932600	Weak transcription	Psoas Muscle	Psoas
21	chr8:103930800-103932800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:103930800-103932800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:103931000-103932600	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:103931000-103932800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:103931000-103932800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:103931000-103932800	Enhancers	Brain Angular Gyrus	brain
27	chr8:103931000-103933000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:103931000-103933400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:103931000-103935000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:103931200-103932800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:103931200-103933000	Enhancers	Right Atrium	heart
32	chr8:103931200-103933200	Enhancers	Ovary	ovary
33	chr8:103931200-103933400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:103931200-103936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:103931400-103932600	Enhancers	Right Ventricle	heart
36	chr8:103931400-103936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:103931600-103933000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr8:103931600-103933000	Enhancers	Fetal Stomach	stomach
39	chr8:103931800-103932600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:103931800-103932800	Enhancers	Left Ventricle	heart
41	chr8:103931800-103933000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:103931800-103933600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:103931800-103934000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:103931800-103937000	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
46	chr8:103932000-103932600	Enhancers	Small Intestine	intestine
47	chr8:103932000-103932800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:103932000-103933000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:103932000-103933000	Enhancers	GM12878-XiMat	blood
50	chr8:103932000-103934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links