Variant report

Variant	rs73699977
Chromosome Location	chr8:107667325-107667326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr8:107667220-107667412	GM12878	blood:	n/a	n/a
2	CUX1	chr8:107667053-107667332	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107627292..107630232-chr8:107665410..107668409,2	MCF-7	breast:
2	chr8:107663656..107667429-chr8:107667616..107670657,4	K562	blood:
3	chr8:107655517..107658061-chr8:107665588..107668318,2	K562	blood:
4	chr8:107665950..107668451-chr8:107679150..107681504,2	K562	blood:
5	chr8:107661627..107663921-chr8:107666779..107668430,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28921431	1.00[AMR][1000 genomes]
rs28923768	1.00[AMR][1000 genomes]
rs58367828	1.00[AMR][1000 genomes]
rs60330002	1.00[AMR][1000 genomes]
rs73699598	1.00[AMR][1000 genomes]
rs73699911	0.85[AFR][1000 genomes]
rs73699978	0.90[AFR][1000 genomes]
rs73700000	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:107601600-107669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107658200-107668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:107658600-107668600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:107661400-107669400	Weak transcription	Esophagus	oesophagus
5	chr8:107661600-107668600	Weak transcription	Stomach Mucosa	stomach
6	chr8:107662800-107668800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:107666400-107668600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:107666600-107669000	Weak transcription	NHLF	lung
9	chr8:107667000-107667800	Enhancers	Fetal Intestine Small	intestine
10	chr8:107667000-107667800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:107667000-107668800	Enhancers	GM12878-XiMat	blood
12	chr8:107667000-107671400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:107667200-107667400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:107667200-107667600	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:107667200-107667800	Enhancers	Fetal Intestine Large	intestine
16	chr8:107667200-107668400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:107667200-107668400	Enhancers	HMEC	breast
18	chr8:107667200-107668800	Enhancers	NHEK	skin
19	chr8:107667200-107669200	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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