Variant report

Variant	rs2074719
Chromosome Location	chr7:50823216-50823217
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	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
2	chr7:50821713..50823386-chr7:50826652..50828683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1014384	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1019000	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10226937	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10231012	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10235345	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10239268	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1024531	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10248029	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10258458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268643	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273302	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10276986	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10281065	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10464765	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10464766	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10464790	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10486761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238310	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238315	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238325	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11238326	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11238337	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11238339	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11974751	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11978750	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11983539	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12668316	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12671577	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12674028	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12718925	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12718926	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12718927	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12718929	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12718930	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13232029	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859571	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2051895	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2051896	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2074720	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074721	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074722	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074777	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2108349	0.86[AMR][1000 genomes]
rs2158670	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329554	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2876846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801000	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6593164	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593173	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593174	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593180	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6943153	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6943901	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6945597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6946194	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6951356	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957007	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6958750	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6960912	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6963498	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6966774	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6967612	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6971834	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6976572	0.87[AFR][1000 genomes]
rs6979369	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs757773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757777	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7785908	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7785914	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786917	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7788511	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7793570	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7802338	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7803278	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7809623	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7809775	0.88[AMR][1000 genomes]
rs886700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:50798800-50832400	Weak transcription	HSMM	muscle
3	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
4	chr7:50802600-50824000	Weak transcription	NH-A	brain
5	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
8	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
11	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:50811000-50829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:50812600-50828200	Weak transcription	K562	blood
15	chr7:50812600-50829400	Weak transcription	NHDF-Ad	bronchial
16	chr7:50813800-50824600	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:50814400-50824600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
19	chr7:50814800-50828400	Weak transcription	Fetal Brain Male	brain
20	chr7:50815000-50834400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:50816000-50824800	Weak transcription	NHLF	lung
22	chr7:50816000-50825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:50816000-50834200	Weak transcription	A549	lung
24	chr7:50816200-50829400	Weak transcription	Aorta	Aorta
25	chr7:50816200-50831400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:50816200-50834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:50816800-50833800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:50817400-50825800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:50819200-50823800	Weak transcription	Brain Anterior Caudate	brain
31	chr7:50819200-50823800	Weak transcription	HUVEC	blood vessel
32	chr7:50819200-50825800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:50819400-50825400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:50819400-50831800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:50819600-50833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:50819800-50824600	Genic enhancers	Pancreas	Pancrea
37	chr7:50820200-50823800	Strong transcription	Fetal Stomach	stomach
38	chr7:50820200-50824400	Enhancers	Right Atrium	heart
39	chr7:50820200-50824800	Genic enhancers	Right Ventricle	heart
40	chr7:50820200-50825000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:50820400-50823600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:50820400-50823800	Genic enhancers	Left Ventricle	heart
44	chr7:50820600-50823800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:50820600-50825400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:50820600-50827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:50821000-50823600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:50821200-50823400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:50821200-50823600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:50821200-50824400	Enhancers	Colon Smooth Muscle	Colon

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