Variant report

Variant	rs73273181
Chromosome Location	chr12:39163495-39163496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs3803019	1.00[AMR][1000 genomes]
rs55845087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56091726	1.00[EUR][1000 genomes]
rs56310820	1.00[EUR][1000 genomes]
rs60539249	1.00[EUR][1000 genomes]
rs61221058	1.00[EUR][1000 genomes]
rs7136317	1.00[EUR][1000 genomes]
rs7307821	1.00[EUR][1000 genomes]
rs73269146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73269173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274761	1.00[EUR][1000 genomes]
rs73274764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085753	1.00[AMR][1000 genomes]
rs74086007	1.00[EUR][1000 genomes]
rs74087366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
2	chr12:39115800-39164400	Weak transcription	Lung	lung
3	chr12:39118400-39165600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39144200-39173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:39146400-39165400	Weak transcription	GM12878-XiMat	blood
6	chr12:39152200-39171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:39152600-39165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:39152800-39165600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:39153800-39165400	Weak transcription	HMEC	breast
10	chr12:39153800-39188600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:39154600-39170800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:39155200-39165600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:39155200-39169200	Weak transcription	Left Ventricle	heart
14	chr12:39156400-39169400	Weak transcription	NHEK	skin
15	chr12:39157200-39165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:39157400-39165600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:39157600-39165600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:39158000-39165800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:39158800-39165800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:39160800-39165600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:39161200-39165600	Weak transcription	Liver	Liver
22	chr12:39162600-39163800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:39162800-39164400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:39162800-39164800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr12:39163000-39164000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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