Variant report

Variant	rs680402
Chromosome Location	chr6:119457836-119457837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119448712..119451778-chr6:119457620..119460720,3	K562	blood:
2	chr6:119457082..119458872-chr6:119461721..119463270,2	K562	blood:
3	chr6:119457764..119460226-chr6:119669277..119671807,2	MCF-7	breast:
4	chr6:119455611..119461723-chr6:119466568..119469851,5	K562	blood:
5	chr6:119456618..119458872-chr6:119461770..119464134,2	K562	blood:
6	chr6:119453303..119455487-chr6:119456152..119458253,2	MCF-7	breast:
7	chr6:119455611..119458749-chr6:119466100..119469942,4	K562	blood:
8	chr6:119450079..119455479-chr6:119456627..119461758,6	K562	blood:
9	chr6:119254124..119256815-chr6:119457284..119459467,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111877	Chromatin interaction
ENSG00000253194	Chromatin interaction
ENSG00000111885	Chromatin interaction

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

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

rs_ID	r²[population]
rs10223503	1.00[EUR][1000 genomes]
rs1150130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1150131	0.86[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593386	1.00[EUR][1000 genomes]
rs601734	1.00[EUR][1000 genomes]
rs615414	1.00[EUR][1000 genomes]
rs617200	1.00[EUR][1000 genomes]
rs637631	1.00[EUR][1000 genomes]
rs638083	1.00[EUR][1000 genomes]
rs645361	1.00[EUR][1000 genomes]
rs685956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs811579	1.00[EUR][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119450600-119458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:119450600-119469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:119451400-119468800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:119451800-119460400	Weak transcription	HSMMtube	muscle
5	chr6:119452200-119458800	Weak transcription	HepG2	liver
6	chr6:119452800-119460200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:119453800-119458000	Weak transcription	Fetal Lung	lung
8	chr6:119453800-119458400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:119454000-119458000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:119454000-119458200	Weak transcription	NHDF-Ad	bronchial
11	chr6:119454000-119458200	Weak transcription	Osteobl	bone
12	chr6:119454000-119458600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:119454200-119458000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:119454200-119458600	Weak transcription	Adipose Nuclei	Adipose
15	chr6:119454400-119458200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:119454800-119458600	Weak transcription	Pancreas	Pancrea
17	chr6:119457000-119474800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:119457600-119458000	Enhancers	K562	blood
19	chr6:119457800-119458600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:119457800-119460400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:119457800-119461200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:119457800-119462200	Enhancers	Fetal Muscle Leg	muscle

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