Variant report

Variant	rs7012450
Chromosome Location	chr8:61667427-61667428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61646629..61649455-chr8:61665377..61667682,2	K562	blood:
2	chr8:61651342..61653464-chr8:61667353..61670158,2	K562	blood:
3	chr8:61665265..61668192-chr8:61670388..61672627,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10093135	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103011	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109193	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038351	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1038352	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10448027	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10808711	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808712	0.88[ASN][1000 genomes]
rs10808713	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957154	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957155	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957156	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957158	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957161	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11985638	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986742	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11988338	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11990495	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991467	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11992809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11993480	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993490	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993896	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11995234	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12544305	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681737	0.88[ASN][1000 genomes]
rs13255519	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264014	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269752	0.85[EUR][1000 genomes]
rs13277976	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384688	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483206	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926407	0.84[ASN][1000 genomes]
rs1905305	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964573	0.85[EUR][1000 genomes]
rs2035456	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2035457	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054666	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054667	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2128713	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2326598	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28653462	0.93[ASN][1000 genomes]
rs2875984	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237037	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4237038	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4289855	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4301480	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4391471	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4392940	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4500113	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540437	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4562360	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4581092	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737563	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737565	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4738815	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4738818	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4738820	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4738821	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738822	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738824	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738827	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471894	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471896	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471897	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471898	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471901	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471902	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471903	0.81[EUR][1000 genomes]
rs6982898	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988582	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6994180	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995557	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6996597	0.84[EUR][1000 genomes]
rs6996775	0.80[EUR][1000 genomes]
rs6997208	0.84[EUR][1000 genomes]
rs7000766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000957	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002806	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009754	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011972	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017676	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730085	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814114	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816126	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816621	0.84[ASN][1000 genomes]
rs7823484	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826035	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834076	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7834977	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7836586	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840098	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842389	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842498	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843033	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845701	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846065	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900502	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9298040	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298042	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643371	0.84[ASN][1000 genomes]
rs9650201	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61655600-61671400	Weak transcription	Hela-S3	cervix
2	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:61657000-61690400	Weak transcription	HepG2	liver
4	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
5	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
6	chr8:61664400-61671200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:61664800-61671800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:61665000-61667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:61665000-61671200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:61665000-61671200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:61665000-61671200	Weak transcription	HUVEC	blood vessel
13	chr8:61665000-61671800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:61665000-61671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:61665000-61671800	Weak transcription	Fetal Brain Male	brain
16	chr8:61665000-61672000	Weak transcription	Right Atrium	heart
17	chr8:61665000-61674400	Weak transcription	Primary B cells from cord blood	blood
18	chr8:61665000-61674800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:61665000-61677600	Weak transcription	Psoas Muscle	Psoas
20	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:61665200-61671800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:61665200-61674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:61665200-61674800	Weak transcription	Left Ventricle	heart
24	chr8:61665200-61677200	Weak transcription	Fetal Thymus	thymus
25	chr8:61665400-61674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:61665600-61671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:61665600-61671200	Weak transcription	Brain Anterior Caudate	brain
28	chr8:61665600-61671400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:61665600-61671400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:61665600-61671400	Weak transcription	GM12878-XiMat	blood
31	chr8:61665600-61672000	Weak transcription	Fetal Brain Female	brain
32	chr8:61665600-61674800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:61665800-61668800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:61665800-61669000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:61665800-61671200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:61665800-61671200	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:61665800-61671200	Weak transcription	Dnd41	blood
38	chr8:61665800-61671200	Weak transcription	K562	blood
39	chr8:61665800-61679000	Weak transcription	Adipose Nuclei	Adipose
40	chr8:61666000-61671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:61666000-61671600	Weak transcription	HSMMtube	muscle
42	chr8:61666000-61672000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:61666000-61672400	Weak transcription	Primary T cells from cord blood	blood
44	chr8:61666200-61668600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:61666200-61668800	Weak transcription	Brain Germinal Matrix	brain
46	chr8:61666200-61669000	Weak transcription	Fetal Heart	heart
47	chr8:61666200-61671200	Weak transcription	Brain Substantia Nigra	brain
48	chr8:61666400-61671800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:61666600-61667600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:61666800-61670600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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