Variant report

Variant	rs72726203
Chromosome Location	chr8:131420763-131420764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131419011..131421819-chr8:131431981..131433568,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11776262	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11777909	1.00[AMR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11784988	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11785806	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57315235	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722393	1.00[AMR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724412	0.93[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724490	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726240	0.81[AMR][1000 genomes]
rs72726241	0.87[AMR][1000 genomes]
rs72726244	0.87[AMR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
8	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
13	chr8:131410000-131423200	Weak transcription	Ovary	ovary
14	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:131414800-131422000	Weak transcription	Fetal Heart	heart
18	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
19	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:131417400-131422800	Weak transcription	NH-A	brain
21	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
22	chr8:131418000-131420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:131418000-131421600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:131418000-131422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:131418000-131422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:131418000-131422800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:131418000-131423600	Weak transcription	HepG2	liver
28	chr8:131418600-131428200	Weak transcription	HMEC	breast
29	chr8:131419000-131420800	Enhancers	Osteobl	bone
30	chr8:131419400-131420800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:131419400-131421600	Weak transcription	A549	lung
32	chr8:131419600-131423400	Weak transcription	NHEK	skin
33	chr8:131419800-131421800	Weak transcription	Left Ventricle	heart
34	chr8:131419800-131421800	Weak transcription	Right Atrium	heart
35	chr8:131419800-131423200	Weak transcription	Spleen	Spleen
36	chr8:131420000-131421200	Enhancers	HUVEC	blood vessel
37	chr8:131420000-131421600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:131420000-131422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:131420000-131423400	Weak transcription	Lung	lung
40	chr8:131420200-131428200	Weak transcription	NHDF-Ad	bronchial
41	chr8:131420400-131420800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:131420400-131421000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:131420400-131421000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr8:131420400-131421000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:131420400-131421000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:131420400-131421000	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr8:131420400-131421200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:131420600-131421200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:131420600-131422800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:131420600-131428000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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