Variant report

Variant	rs6982389
Chromosome Location	chr8:49829210-49829211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49670019..49671921-chr8:49828868..49831772,2	MCF-7	breast:
2	chr8:49823789..49827076-chr8:49829140..49832248,4	MCF-7	breast:
3	chr8:49541767..49544762-chr8:49827612..49829547,2	MCF-7	breast:
4	chr8:49698250..49700895-chr8:49829079..49831247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233109	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1023768	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10808733	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11781122	0.84[EUR][1000 genomes]
rs17635249	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1992374	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2891682	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4531074	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49816200-49830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:49817800-49832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:49824000-49831000	Weak transcription	Fetal Brain Male	brain
4	chr8:49824400-49830800	Weak transcription	Adipose Nuclei	Adipose
5	chr8:49824600-49829600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:49825000-49829600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:49825000-49831400	Weak transcription	Aorta	Aorta
8	chr8:49825200-49830600	Weak transcription	Fetal Stomach	stomach
9	chr8:49827000-49830800	Weak transcription	HSMMtube	muscle
10	chr8:49827400-49829800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:49827600-49829400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:49827600-49830000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:49827800-49829400	Weak transcription	NHLF	lung
14	chr8:49827800-49829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:49827800-49830000	Weak transcription	NH-A	brain
16	chr8:49827800-49830200	Weak transcription	Osteobl	bone
17	chr8:49827800-49830600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:49828000-49830000	Weak transcription	HMEC	breast
19	chr8:49828000-49830200	Weak transcription	Liver	Liver
20	chr8:49828000-49830800	Weak transcription	Hela-S3	cervix
21	chr8:49828200-49831200	Weak transcription	A549	lung
22	chr8:49828400-49830000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:49828600-49831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:49828800-49829600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr8:49828800-49830000	Weak transcription	HSMM	muscle
26	chr8:49828800-49831200	Weak transcription	Left Ventricle	heart
27	chr8:49829000-49829800	ZNF genes & repeats	Fetal Kidney	kidney
28	chr8:49829000-49830000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:49829000-49831000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:49829200-49829400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:49829200-49829600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:49829200-49829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:49829200-49830000	ZNF genes & repeats	Fetal Lung	lung
34	chr8:49829200-49830200	Genic enhancers	NHDF-Ad	bronchial
35	chr8:49829200-49830800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links