Variant report

Variant	rs73678256
Chromosome Location	chr8:49166612-49166613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4584166	0.85[AFR][1000 genomes]
rs55997545	0.85[AFR][1000 genomes]
rs57059132	0.85[AFR][1000 genomes]
rs57774160	0.85[AFR][1000 genomes]
rs73678257	0.85[AFR][1000 genomes]
rs73678258	0.85[AFR][1000 genomes]
rs73678260	0.85[AFR][1000 genomes]
rs73678261	0.85[AFR][1000 genomes]
rs73678262	0.85[AFR][1000 genomes]
rs7822677	0.85[AFR][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	esv16816	chr8:49118221-49166985	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49157200-49171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49165800-49167200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:49165800-49167800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:49165800-49168200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:49165800-49168600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:49166200-49173800	Weak transcription	Right Atrium	heart
7	chr8:49166400-49166800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:49166400-49167000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:49166400-49167200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:49166400-49167200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:49166400-49167600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:49166400-49168000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:49166400-49168200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:49166600-49166800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:49166600-49166800	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:49166600-49167000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:49166600-49167000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:49166600-49167000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:49166600-49167000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:49166600-49167000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:49166600-49167000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:49166600-49167200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:49166600-49167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:49166600-49167800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:49166600-49168000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:49166600-49168600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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