Variant report

Variant	rs10448027
Chromosome Location	chr8:61714245-61714246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61713261..61715808-chr8:61718950..61722058,4	K562	blood:
2	chr8:61714225..61717051-chr8:61718914..61720605,3	K562	blood:
3	chr8:61710564..61712075-chr8:61713970..61716814,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10093135	0.89[EUR][1000 genomes]
rs10103011	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109193	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1038351	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1038352	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10808711	0.89[EUR][1000 genomes]
rs10808713	0.88[EUR][1000 genomes]
rs10957154	0.90[EUR][1000 genomes]
rs10957155	0.90[EUR][1000 genomes]
rs10957156	0.88[EUR][1000 genomes]
rs10957158	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10957161	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10957162	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11985638	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11986059	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11986742	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11988338	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11989183	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11990495	0.90[EUR][1000 genomes]
rs11991467	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11992809	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11993480	0.81[EUR][1000 genomes]
rs11993490	0.86[EUR][1000 genomes]
rs11993896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11995234	0.90[EUR][1000 genomes]
rs12544305	0.89[EUR][1000 genomes]
rs13255519	0.89[EUR][1000 genomes]
rs13264014	0.89[EUR][1000 genomes]
rs13277976	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1384688	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1483206	0.90[EUR][1000 genomes]
rs1905305	0.90[EUR][1000 genomes]
rs2035456	0.90[EUR][1000 genomes]
rs2035457	0.90[EUR][1000 genomes]
rs2054666	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2054667	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2128713	0.90[EUR][1000 genomes]
rs2326598	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2875984	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4237037	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4237038	0.92[EUR][1000 genomes]
rs4289855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4307377	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4387010	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4391471	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4392940	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4416857	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4449834	0.81[EUR][1000 genomes]
rs4500113	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4507803	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4526395	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4540437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4562360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4581092	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737563	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4737565	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738815	0.89[EUR][1000 genomes]
rs4738818	0.90[EUR][1000 genomes]
rs4738820	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4738821	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4738822	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4738824	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4738827	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4738831	0.81[EUR][1000 genomes]
rs4738832	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6471894	0.89[EUR][1000 genomes]
rs6471896	0.89[EUR][1000 genomes]
rs6471897	0.84[EUR][1000 genomes]
rs6471898	0.84[EUR][1000 genomes]
rs6471901	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6471902	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6471903	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6471905	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6982898	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988582	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6994180	0.90[EUR][1000 genomes]
rs6995557	0.90[EUR][1000 genomes]
rs6996597	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6996775	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6997208	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6997222	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7000766	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7000957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002806	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7005873	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7009754	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7011972	0.89[EUR][1000 genomes]
rs7012450	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7016832	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7017676	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs730085	0.88[EUR][1000 genomes]
rs7814114	0.86[EUR][1000 genomes]
rs7816126	0.85[EUR][1000 genomes]
rs7823484	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7826035	0.90[EUR][1000 genomes]
rs7834076	0.83[EUR][1000 genomes]
rs7834977	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7836586	0.89[EUR][1000 genomes]
rs7838426	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7840098	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7842389	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7842498	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7843033	0.93[EUR][1000 genomes]
rs7844902	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7845701	0.89[EUR][1000 genomes]
rs7846065	0.90[EUR][1000 genomes]
rs900502	0.89[EUR][1000 genomes]
rs9298040	0.89[EUR][1000 genomes]
rs9298042	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9650201	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61688800-61719600	Weak transcription	NHEK	skin
3	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:61692200-61719400	Weak transcription	HMEC	breast
5	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
6	chr8:61695200-61722600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:61696400-61736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:61700200-61716400	Weak transcription	Hela-S3	cervix
9	chr8:61704400-61745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:61705400-61728200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:61705600-61720000	Weak transcription	NH-A	brain
12	chr8:61705600-61721000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:61705600-61721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:61705600-61725800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:61705600-61726600	Weak transcription	Right Ventricle	heart
16	chr8:61705600-61728000	Weak transcription	Small Intestine	intestine
17	chr8:61705600-61742400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:61705600-61742600	Weak transcription	Spleen	Spleen
19	chr8:61705600-61743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:61705600-61743000	Weak transcription	Fetal Stomach	stomach
21	chr8:61705600-61743000	Weak transcription	Lung	lung
22	chr8:61705800-61717000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:61705800-61720400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:61705800-61720400	Weak transcription	K562	blood
25	chr8:61705800-61721600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:61705800-61721800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:61705800-61723400	Weak transcription	Esophagus	oesophagus
28	chr8:61705800-61733400	Weak transcription	Adipose Nuclei	Adipose
29	chr8:61705800-61735000	Weak transcription	Brain Substantia Nigra	brain
30	chr8:61705800-61742400	Weak transcription	Gastric	stomach
31	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
32	chr8:61706000-61723600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:61706200-61720800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:61706600-61723200	Weak transcription	Left Ventricle	heart
35	chr8:61707200-61717400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:61708600-61716400	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:61708600-61719400	Weak transcription	Fetal Thymus	thymus
38	chr8:61708600-61722800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:61708600-61722800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:61708600-61722800	Weak transcription	Brain Anterior Caudate	brain
41	chr8:61708800-61720400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:61708800-61720400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:61708800-61736400	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:61708800-61739000	Weak transcription	A549	lung
45	chr8:61709200-61715200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:61709400-61714800	Weak transcription	Fetal Lung	lung
47	chr8:61709600-61714400	Weak transcription	Dnd41	blood
48	chr8:61709600-61714600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:61709600-61728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:61709800-61725200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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