Variant report

Variant	rs17201978
Chromosome Location	chr8:122163581-122163582
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122148307..122150267-chr8:122162331..122164010,2	MCF-7	breast:
2	chr8:122162088..122164640-chr8:122176142..122178606,2	MCF-7	breast:
3	chr8:122163032..122163721-chr8:128871648..128872338,2	MCF-7	breast:
4	chr8:122163091..122163821-chr8:122444540..122445190,3	MCF-7	breast:
5	chr8:122161597..122165424-chr8:122183969..122186633,4	MCF-7	breast:
6	chr8:122145198..122146029-chr8:122162984..122163685,2	MCF-7	breast:
7	chr8:122162909..122163820-chr8:122177164..122177901,3	MCF-7	breast:
8	chr8:122162872..122163801-chr8:122177393..122178120,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10956002	0.99[EUR][1000 genomes]
rs10956003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10956004	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17204209	1.00[AFR][1000 genomes]
rs17261452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17262162	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2019338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28675872	0.97[EUR][1000 genomes]
rs4367550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4584147	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60715997	0.93[EUR][1000 genomes]
rs6984162	1.00[EUR][1000 genomes]
rs73320943	1.00[EUR][1000 genomes]
rs73320945	1.00[EUR][1000 genomes]
rs73707537	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122158200-122169800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:122158400-122165800	Weak transcription	A549	lung
3	chr8:122158600-122165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:122160000-122164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:122160000-122165600	Weak transcription	NHLF	lung
6	chr8:122160200-122165800	Weak transcription	HMEC	breast
7	chr8:122160200-122166000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:122160200-122166000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:122161000-122166000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:122161000-122167400	Weak transcription	Fetal Stomach	stomach
11	chr8:122163000-122163600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:122163000-122164200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:122163000-122164400	Enhancers	Hela-S3	cervix
14	chr8:122163200-122163800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:122163200-122163800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:122163200-122163800	Enhancers	Fetal Intestine Large	intestine
17	chr8:122163200-122163800	Enhancers	Fetal Intestine Small	intestine
18	chr8:122163200-122164000	Enhancers	Stomach Mucosa	stomach
19	chr8:122163200-122164200	Enhancers	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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