Variant report

Variant	rs7815216
Chromosome Location	chr8:54868806-54868807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54864579..54866834-chr8:54868717..54871621,2	K562	blood:
2	chr8:54866574..54869631-chr8:54872267..54874900,3	MCF-7	breast:
3	chr8:54849613..54851701-chr8:54866654..54869224,2	K562	blood:
4	chr8:54867998..54869976-chr8:54891193..54893956,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10101097	0.88[ASN][1000 genomes]
rs10113246	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1050523	0.95[ASN][1000 genomes]
rs11986577	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11993367	0.90[ASN][1000 genomes]
rs11994629	0.83[ASN][1000 genomes]
rs11996666	0.97[ASN][1000 genomes]
rs11997954	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056381	0.97[ASN][1000 genomes]
rs12674671	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676510	0.93[ASN][1000 genomes]
rs12677696	0.87[EUR][1000 genomes]
rs1828835	0.83[ASN][1000 genomes]
rs2037068	0.90[ASN][1000 genomes]
rs2375697	0.96[ASN][1000 genomes]
rs28494618	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4440612	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4506187	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4515510	0.96[ASN][1000 genomes]
rs4737457	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737479	0.84[ASN][1000 genomes]
rs4737486	0.83[ASN][1000 genomes]
rs4738519	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738556	0.97[ASN][1000 genomes]
rs4738586	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57872947	0.89[ASN][1000 genomes]
rs58387069	0.83[ASN][1000 genomes]
rs58419852	0.83[ASN][1000 genomes]
rs58929175	0.97[ASN][1000 genomes]
rs58948369	0.82[ASN][1000 genomes]
rs59882028	0.96[ASN][1000 genomes]
rs60183530	0.83[ASN][1000 genomes]
rs61319412	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473900	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473909	0.80[ASN][1000 genomes]
rs6983694	0.83[ASN][1000 genomes]
rs7009781	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011379	0.82[ASN][1000 genomes]
rs72614663	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614664	0.97[ASN][1000 genomes]
rs72614665	0.97[ASN][1000 genomes]
rs72614666	0.83[ASN][1000 genomes]
rs72614667	0.83[ASN][1000 genomes]
rs72614668	0.81[ASN][1000 genomes]
rs7463261	0.96[ASN][1000 genomes]
rs7464767	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9298497	0.95[ASN][1000 genomes]
rs9643823	0.97[ASN][1000 genomes]
rs9643824	0.85[EUR][1000 genomes];0.96[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:83 , 50 per page) page: 1 2

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	chr8:54853800-54869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:54858000-54870800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:54858000-54870800	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:54858000-54871400	Weak transcription	Primary B cells from cord blood	blood
9	chr8:54858000-54872000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:54858200-54872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:54858200-54872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:54858200-54872600	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:54858200-54879000	Weak transcription	Right Atrium	heart
14	chr8:54858400-54871400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:54858400-54872600	Weak transcription	Lung	lung
16	chr8:54859000-54872200	Weak transcription	Aorta	Aorta
17	chr8:54859600-54869400	Weak transcription	HMEC	breast
18	chr8:54859600-54881200	Weak transcription	Hela-S3	cervix
19	chr8:54859600-54885400	Weak transcription	K562	blood
20	chr8:54862000-54879200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:54862200-54872200	Weak transcription	Primary T cells from cord blood	blood
22	chr8:54862200-54879200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:54866000-54869600	Weak transcription	Placenta	Placenta
24	chr8:54866000-54872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:54866200-54870000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:54866200-54870000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:54866200-54872600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:54866400-54872000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:54866600-54872600	Weak transcription	Fetal Lung	lung
30	chr8:54866600-54872600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:54866600-54872600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:54866600-54873400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:54866600-54893600	Weak transcription	Fetal Kidney	kidney
34	chr8:54866800-54870000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:54866800-54872000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:54866800-54872200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:54866800-54872600	Weak transcription	Fetal Stomach	stomach
38	chr8:54866800-54872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:54866800-54873200	Weak transcription	Ovary	ovary
40	chr8:54866800-54875400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:54866800-54885200	Weak transcription	NH-A	brain
42	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
44	chr8:54867000-54870600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:54867000-54870800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:54867000-54871400	Weak transcription	NHDF-Ad	bronchial
47	chr8:54867000-54872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:54867000-54872400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:54867000-54872600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:54867000-54872600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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