Variant report

Variant	rs73552914
Chromosome Location	chr6:117770718-117770719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:117769760-117771602	SK-N-SH	brain:	n/a	chr6:117771192-117771211
2	TCF12	chr6:117768998-117771398	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr6:117770700-117770850	HMEC	breast:	n/a	n/a
4	STAT3	chr6:117770623-117770719	MCF10A-Er-Src	breast:	n/a	chr6:117770639-117770650
5	SMC3	chr6:117770447-117772551	SK-N-SH	brain:	n/a	chr6:117771193-117771207

No.	Distal block	Cell Line	Cell type
1	chr6:117770311..117771186-chr6:117926141..117926806,2	K562	blood:
2	chr6:117770674..117771260-chr6:118150789..118151724,2	K562	blood:
3	chr6:117763172..117766100-chr6:117768265..117771221,3	MCF-7	breast:
4	chr6:117769491..117771172-chr6:117894297..117895800,2	K562	blood:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12183926	1.00[AMR][1000 genomes]
rs12717173	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41444649	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41482448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41528247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6933025	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6940610	1.00[AMR][1000 genomes]
rs73551175	0.92[AFR][1000 genomes]
rs73551183	0.92[AFR][1000 genomes]
rs73551187	0.92[AFR][1000 genomes]
rs73551199	0.92[AFR][1000 genomes]
rs73551200	0.92[AFR][1000 genomes]
rs73552904	0.90[AFR][1000 genomes]
rs7744450	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7761946	0.92[AFR][1000 genomes]
rs9489214	1.00[AMR][1000 genomes]
rs9489216	1.00[AMR][1000 genomes]
rs9688613	1.00[AMR][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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117763000-117772200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:117767400-117770800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:117767400-117771600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:117767800-117771200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:117768000-117773400	Enhancers	NHEK	skin
6	chr6:117768200-117773200	Enhancers	Osteobl	bone
7	chr6:117768200-117773600	Enhancers	HMEC	breast
8	chr6:117768800-117772000	Enhancers	NHLF	lung
9	chr6:117769000-117773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:117769200-117771000	Enhancers	Stomach Mucosa	stomach
11	chr6:117769200-117771000	Bivalent Enhancer	HUVEC	blood vessel
12	chr6:117769200-117771200	Enhancers	Fetal Stomach	stomach
13	chr6:117769200-117773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:117769600-117770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:117769600-117770800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:117769600-117770800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:117769600-117770800	Weak transcription	Brain Substantia Nigra	brain
18	chr6:117769600-117771000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:117769600-117771000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:117769600-117771600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:117769600-117773400	Enhancers	HSMM	muscle
22	chr6:117769600-117779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:117769800-117770800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:117769800-117771000	Enhancers	Aorta	Aorta
25	chr6:117769800-117771200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:117769800-117771200	Enhancers	NHDF-Ad	bronchial
27	chr6:117769800-117773600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:117769800-117773600	Enhancers	HSMMtube	muscle
29	chr6:117770000-117770800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr6:117770000-117771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:117770000-117773000	Enhancers	NH-A	brain
32	chr6:117770000-117773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:117770000-117778000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:117770200-117771400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:117770400-117771000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:117770400-117771200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:117770400-117771200	Flanking Active TSS	A549	lung
38	chr6:117770400-117771200	Flanking Active TSS	Hela-S3	cervix
39	chr6:117770600-117773400	Enhancers	Muscle Satellite Cultured Cells	--

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