Variant report

Variant	rs73678259
Chromosome Location	chr8:49179044-49179045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49178987..49179896-chr8:49837365..49838730,6	MCF-7	breast:
2	chr8:49178740..49180678-chr8:49182631..49185372,2	K562	blood:
3	chr8:49178919..49181717-chr8:49182631..49184742,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11991972	1.00[AMR][1000 genomes]
rs12114205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114564	1.00[AMR][1000 genomes]
rs4304348	1.00[AMR][1000 genomes]
rs4546687	1.00[AMR][1000 genomes]
rs4546688	1.00[AMR][1000 genomes]
rs4609219	1.00[AMR][1000 genomes]
rs4637865	1.00[AMR][1000 genomes]
rs55708513	1.00[AMR][1000 genomes]
rs55770276	1.00[AMR][1000 genomes]
rs55956950	1.00[AMR][1000 genomes]
rs56102090	1.00[AMR][1000 genomes]
rs57688729	1.00[AMR][1000 genomes]
rs57834756	1.00[AMR][1000 genomes]
rs58045776	1.00[AMR][1000 genomes]
rs58175922	1.00[AMR][1000 genomes]
rs58431112	1.00[AMR][1000 genomes]
rs58555026	1.00[AMR][1000 genomes]
rs59517761	1.00[AMR][1000 genomes]
rs59634313	1.00[AMR][1000 genomes]
rs60463191	1.00[AMR][1000 genomes]
rs61602855	1.00[AMR][1000 genomes]
rs73678239	1.00[AMR][1000 genomes]
rs73678240	1.00[AMR][1000 genomes]
rs73678243	1.00[AMR][1000 genomes]
rs73678244	1.00[AMR][1000 genomes]
rs73678245	1.00[AMR][1000 genomes]
rs73678246	1.00[AMR][1000 genomes]
rs7465660	1.00[AMR][1000 genomes]
rs7843537	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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49173200-49182000	Weak transcription	Esophagus	oesophagus
2	chr8:49173400-49186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:49174200-49181600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:49174200-49186400	Weak transcription	Right Atrium	heart
5	chr8:49175000-49186600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:49175200-49179200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:49176800-49181200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:49177600-49180600	Weak transcription	Fetal Stomach	stomach
9	chr8:49177600-49181000	Weak transcription	NHDF-Ad	bronchial
10	chr8:49177600-49181200	Weak transcription	NHLF	lung
11	chr8:49177600-49181400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:49178200-49179400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:49178200-49182400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:49178400-49181200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:49178400-49181400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:49178600-49180200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:49178800-49179200	Enhancers	Spleen	Spleen
18	chr8:49178800-49179400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:49179000-49179200	Enhancers	Adipose Nuclei	Adipose
20	chr8:49179000-49179200	Enhancers	Lung	lung
21	chr8:49179000-49179600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:49179000-49179800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:49179000-49180000	Enhancers	HUVEC	blood vessel
24	chr8:49179000-49180200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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