Variant report

Variant	rs218905
Chromosome Location	chr8:90735889-90735890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90732834..90736227-chr8:90736670..90741646,5	MCF-7	breast:
2	chr8:90735006..90737562-chr8:90957378..90959199,2	MCF-7	breast:
3	chr8:90734630..90736246-chr8:90739978..90742912,2	K562	blood:
4	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
5	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
6	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
7	chr8:90733158..90736113-chr8:90768378..90769934,2	K562	blood:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1003843	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095743	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112852	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675281	0.81[EUR][1000 genomes]
rs13252013	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13252917	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13259882	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13279023	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs184302	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs218895	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs218899	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218900	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218901	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218902	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218907	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218908	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218909	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218910	0.85[EUR][1000 genomes]
rs218913	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218914	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218916	0.81[EUR][1000 genomes]
rs218925	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs218929	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs218932	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs218934	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs218936	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs218944	0.86[EUR][1000 genomes]
rs218946	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218947	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218948	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2644021	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2644033	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2735870	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735871	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735873	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2735878	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2735882	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs370282	0.81[AMR][1000 genomes]
rs383592	0.81[EUR][1000 genomes]
rs385524	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs39499	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39500	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39503	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39504	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39505	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39506	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39509	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs39761	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs400411	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs40246	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs40247	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs402886	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40382	0.80[AMR][1000 genomes]
rs40452	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40453	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs40544	0.91[EUR][1000 genomes]
rs40545	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs405734	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40636	0.82[AMR][1000 genomes]
rs40638	0.81[AMR][1000 genomes]
rs411279	0.88[AMR][1000 genomes]
rs416324	0.89[AMR][1000 genomes]
rs419754	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42346	0.82[AMR][1000 genomes]
rs42490	0.91[EUR][1000 genomes]
rs431264	0.91[EUR][1000 genomes]
rs43134	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs43225	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs447618	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs454441	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs465	0.80[AMR][1000 genomes]
rs4961158	0.81[EUR][1000 genomes]
rs51331	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6470366	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67143546	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6992985	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6993133	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824932	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs218905	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs218905	RP11-37B2.1	cis	Artery Tibial	GTEx
rs218905	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs218905	RP11-37B2.1	cis	Thyroid	GTEx
rs218905	RP11-37B2.1	cis	Nerve Tibial	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose
2	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
3	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
5	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
6	chr8:90714400-90741000	Weak transcription	Gastric	stomach
7	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:90716800-90738000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:90717400-90738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:90717800-90736200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:90717800-90737800	Weak transcription	NHEK	skin
13	chr8:90717800-90738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:90717800-90738000	Weak transcription	NH-A	brain
15	chr8:90717800-90747800	Weak transcription	Ovary	ovary
16	chr8:90720800-90736000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
18	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:90721200-90736400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:90721800-90738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:90725200-90736200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:90725200-90740400	Weak transcription	Small Intestine	intestine
24	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
25	chr8:90726800-90738200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:90728400-90738000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:90729200-90737800	Weak transcription	Fetal Heart	heart
28	chr8:90730200-90737800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:90731000-90738200	Weak transcription	K562	blood
30	chr8:90731000-90738400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:90731400-90736400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:90731400-90736400	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:90731600-90736000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:90731600-90736200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:90731600-90736200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:90731600-90736400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:90731600-90736400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:90731800-90737000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:90731800-90738000	Weak transcription	NHLF	lung
40	chr8:90731800-90738600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:90732000-90737800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:90732000-90737800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:90732000-90737800	Weak transcription	NHDF-Ad	bronchial
44	chr8:90732000-90738200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:90732200-90738200	Weak transcription	HSMMtube	muscle
46	chr8:90732200-90738400	Weak transcription	HSMM	muscle
47	chr8:90732600-90736400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:90733200-90738000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:90733600-90736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:90733600-90737600	Weak transcription	A549	lung

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