Variant report

Variant	rs72614663
Chromosome Location	chr8:54871757-54871758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54870259..54872063-chr8:54876101..54877711,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10101097	0.90[ASN][1000 genomes]
rs10113246	0.96[ASN][1000 genomes]
rs1050523	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958396	0.81[ASN][1000 genomes]
rs11986577	0.96[ASN][1000 genomes]
rs11993367	0.92[ASN][1000 genomes]
rs11994629	0.84[ASN][1000 genomes]
rs11996666	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11997954	0.99[ASN][1000 genomes]
rs12056381	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674671	0.99[ASN][1000 genomes]
rs12676510	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12677696	0.83[AMR][1000 genomes]
rs1828835	0.84[ASN][1000 genomes]
rs2037068	0.92[ASN][1000 genomes]
rs2375697	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28494618	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440612	0.97[ASN][1000 genomes]
rs4506187	0.92[ASN][1000 genomes]
rs4515510	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737457	0.92[ASN][1000 genomes]
rs4737479	0.85[ASN][1000 genomes]
rs4737485	0.81[ASN][1000 genomes]
rs4737486	0.84[ASN][1000 genomes]
rs4737488	0.81[ASN][1000 genomes]
rs4738519	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738544	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4738556	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738586	0.97[ASN][1000 genomes]
rs57872947	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58387069	0.84[ASN][1000 genomes]
rs58419852	0.84[ASN][1000 genomes]
rs58929175	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58948369	0.84[ASN][1000 genomes]
rs59882028	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60183530	0.84[ASN][1000 genomes]
rs61271559	0.81[ASN][1000 genomes]
rs61319412	0.99[ASN][1000 genomes]
rs6473900	0.99[ASN][1000 genomes]
rs6473909	0.82[ASN][1000 genomes]
rs6983694	0.84[ASN][1000 genomes]
rs7009781	1.00[ASN][1000 genomes]
rs7011379	0.84[ASN][1000 genomes]
rs72614664	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72614665	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72614666	0.84[ASN][1000 genomes]
rs72614667	0.84[ASN][1000 genomes]
rs72614668	0.83[ASN][1000 genomes]
rs7463261	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464767	0.97[ASN][1000 genomes]
rs7815216	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298497	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643823	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643824	0.97[ASN][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
3	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
4	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:54858000-54872000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:54858200-54872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:54858200-54872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:54858200-54872600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:54858200-54879000	Weak transcription	Right Atrium	heart
10	chr8:54858400-54872600	Weak transcription	Lung	lung
11	chr8:54859000-54872200	Weak transcription	Aorta	Aorta
12	chr8:54859600-54881200	Weak transcription	Hela-S3	cervix
13	chr8:54859600-54885400	Weak transcription	K562	blood
14	chr8:54862000-54879200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:54862200-54872200	Weak transcription	Primary T cells from cord blood	blood
16	chr8:54862200-54879200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:54866000-54872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:54866200-54872600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:54866400-54872000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:54866600-54872600	Weak transcription	Fetal Lung	lung
21	chr8:54866600-54872600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:54866600-54872600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:54866600-54873400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:54866600-54893600	Weak transcription	Fetal Kidney	kidney
25	chr8:54866800-54872000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:54866800-54872200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:54866800-54872600	Weak transcription	Fetal Stomach	stomach
28	chr8:54866800-54872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:54866800-54873200	Weak transcription	Ovary	ovary
30	chr8:54866800-54875400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:54866800-54885200	Weak transcription	NH-A	brain
32	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
34	chr8:54867000-54872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:54867000-54872400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:54867000-54872600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:54867000-54872600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:54867000-54872600	Weak transcription	Adipose Nuclei	Adipose
39	chr8:54867000-54872600	Weak transcription	Osteobl	bone
40	chr8:54867000-54872800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:54867000-54872800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:54867000-54873000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:54867000-54873200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:54867000-54874200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:54867000-54875600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:54867000-54884800	Weak transcription	HUVEC	blood vessel
47	chr8:54867200-54871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:54867200-54872600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:54867600-54872200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:54867600-54876000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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