Variant report

Variant	rs72708653
Chromosome Location	chr1:179858824-179858825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179857047..179859272-chr1:179914724..179916523,2	K562	blood:
2	chr1:179856867..179859704-chr1:179868315..179870029,2	K562	blood:
3	chr1:179855626..179859704-chr1:179868315..179870321,3	K562	blood:
4	chr1:179858702..179861770-chr1:179862540..179865155,3	K562	blood:
5	chr1:179850437..179853668-chr1:179858763..179861436,4	K562	blood:
6	chr1:179857167..179860041-chr1:179939702..179942440,2	K562	blood:
7	chr1:179849895..179854138-chr1:179857075..179860267,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264916	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000272906	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12119285	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127900	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136838	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137562	1.00[ASN][1000 genomes]
rs12144653	1.00[ASN][1000 genomes]
rs72710643	1.00[ASN][1000 genomes]
rs72710651	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179852800-179859800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:179852800-179860800	Weak transcription	Stomach Mucosa	stomach
3	chr1:179852800-179871200	Weak transcription	Spleen	Spleen
4	chr1:179853000-179884800	Weak transcription	Esophagus	oesophagus
5	chr1:179853000-179890400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:179853200-179859800	Weak transcription	Colonic Mucosa	Colon
7	chr1:179853200-179859800	Weak transcription	Gastric	stomach
8	chr1:179853200-179859800	Weak transcription	Pancreas	Pancrea
9	chr1:179853200-179861000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:179853200-179886600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:179853200-179890800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:179853400-179859000	Weak transcription	HSMMtube	muscle
13	chr1:179853400-179859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:179853400-179872600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:179853400-179877000	Weak transcription	Right Ventricle	heart
16	chr1:179853400-179878200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:179853400-179882800	Weak transcription	Fetal Brain Male	brain
18	chr1:179853600-179859800	Weak transcription	Aorta	Aorta
19	chr1:179853600-179861600	Strong transcription	Placenta	Placenta
20	chr1:179853800-179859200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:179853800-179861200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:179853800-179863200	Strong transcription	Fetal Lung	lung
23	chr1:179854000-179859000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:179854000-179859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:179854000-179865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:179854000-179886800	Weak transcription	Fetal Heart	heart
27	chr1:179854200-179859400	Weak transcription	HepG2	liver
28	chr1:179854200-179859800	Weak transcription	Thymus	Thymus
29	chr1:179854200-179863000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:179854200-179863000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:179854200-179866600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:179854200-179871800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:179854600-179864800	Strong transcription	Fetal Intestine Large	intestine
34	chr1:179854800-179864200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:179855200-179864600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:179855600-179860000	Weak transcription	Ovary	ovary
37	chr1:179855600-179860000	Strong transcription	Hela-S3	cervix
38	chr1:179855600-179871600	Weak transcription	A549	lung
39	chr1:179855800-179859400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:179856000-179866000	Strong transcription	Liver	Liver
41	chr1:179856200-179859400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:179856200-179876800	Weak transcription	NHLF	lung
43	chr1:179856400-179859800	Weak transcription	NHEK	skin
44	chr1:179856600-179859000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:179856600-179860400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr1:179857400-179859400	Weak transcription	Brain Substantia Nigra	brain
47	chr1:179857600-179859000	Weak transcription	HUVEC	blood vessel
48	chr1:179857600-179859200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:179857600-179859400	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:179857600-179859600	Weak transcription	Brain Angular Gyrus	brain

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