Variant report

Variant	rs73269201
Chromosome Location	chr5:147473126-147473127
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1422999	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269113	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269174	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147450800-147474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:147464200-147491200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:147464400-147488800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:147469200-147481400	Weak transcription	Esophagus	oesophagus
5	chr5:147470200-147481200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:147470400-147518400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:147470600-147508400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:147470600-147509000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:147470800-147473400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:147470800-147473600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:147471600-147473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:147471600-147474400	Enhancers	Colon Smooth Muscle	Colon
13	chr5:147471600-147474800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:147471600-147475000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:147471600-147514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:147472000-147474200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:147472000-147505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:147472200-147474800	Enhancers	NHEK	skin
19	chr5:147472400-147479400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:147472600-147473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:147472600-147475400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:147472600-147497200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:147472800-147474400	Enhancers	Hela-S3	cervix
24	chr5:147473000-147473800	Enhancers	Liver	Liver

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