Variant report

Variant	rs72724461
Chromosome Location	chr8:131383667-131383668
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131370668..131373008-chr8:131383412..131385396,2	K562	blood:
2	chr8:131383247..131386080-chr8:131661845..131664084,2	MCF-7	breast:
3	chr8:131380161..131384136-chr8:131384406..131387200,3	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes];1.00[AMR][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]
rs11777289	0.87[AMR][1000 genomes]
rs11777909	1.00[AMR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];1.00[EUR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.94[EUR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.84[EUR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][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]
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]
rs6991549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722363	0.81[AMR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722381	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];0.84[EUR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.94[EUR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[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];1.00[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
2	chr8:131371600-131383800	Weak transcription	Ovary	ovary
3	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
6	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
7	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
8	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:131371800-131396400	Weak transcription	HepG2	liver
10	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
11	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
13	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
14	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
16	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
17	chr8:131378800-131387800	Weak transcription	HMEC	breast
18	chr8:131378800-131388000	Weak transcription	Hela-S3	cervix
19	chr8:131379000-131384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:131379000-131387800	Weak transcription	HSMM	muscle
21	chr8:131379200-131383800	Weak transcription	Adipose Nuclei	Adipose
22	chr8:131380200-131383800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:131380400-131388200	Weak transcription	NH-A	brain
24	chr8:131380600-131388000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:131380800-131383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:131380800-131387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:131381200-131383800	Weak transcription	Osteobl	bone
29	chr8:131381200-131386600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:131381600-131384400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:131382000-131383800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131382000-131384800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:131382000-131388000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:131382400-131383800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:131382400-131384000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:131382400-131384200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:131382400-131384400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:131382600-131383800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:131382600-131383800	ZNF genes & repeats	A549	lung
41	chr8:131382600-131384000	Strong transcription	HUVEC	blood vessel
42	chr8:131382600-131398800	Weak transcription	Lung	lung
43	chr8:131382800-131386600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:131382800-131386800	Weak transcription	NHLF	lung
45	chr8:131382800-131390200	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:131383200-131388200	Weak transcription	NHDF-Ad	bronchial
47	chr8:131383200-131388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:131383200-131390000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:131383200-131392000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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