Variant report

Variant	rs218925
Chromosome Location	chr8:90749580-90749581
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1003843	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095743	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112852	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675281	0.80[EUR][1000 genomes]
rs13252013	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13252917	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259882	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279023	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs184302	0.85[EUR][1000 genomes]
rs218895	0.86[EUR][1000 genomes]
rs218899	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218900	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218901	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218902	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218905	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs218907	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218908	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218909	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218910	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218913	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218914	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218916	0.80[EUR][1000 genomes]
rs218929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218932	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218934	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218944	0.86[EUR][1000 genomes]
rs218946	0.87[EUR][1000 genomes]
rs218947	0.87[EUR][1000 genomes]
rs218948	0.85[EUR][1000 genomes]
rs2644021	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735870	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735871	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735878	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735882	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs370282	0.86[AMR][1000 genomes]
rs383592	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs385524	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs394108	0.80[AMR][1000 genomes]
rs39499	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39500	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39503	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39504	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39505	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39506	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39509	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39761	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39767	0.80[AMR][1000 genomes]
rs400411	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40246	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40247	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs402886	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40382	0.85[AMR][1000 genomes]
rs40452	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40453	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40544	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40545	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40547	0.83[AMR][1000 genomes]
rs405734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40636	0.87[AMR][1000 genomes]
rs40638	0.86[AMR][1000 genomes]
rs411279	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs416324	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419754	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42346	0.87[AMR][1000 genomes]
rs42490	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431264	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43134	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43135	0.84[AMR][1000 genomes]
rs43225	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs447618	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs454441	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs465	0.85[AMR][1000 genomes]
rs4961158	0.80[EUR][1000 genomes]
rs51331	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67143546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992985	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993133	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824932	0.84[EUR][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	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
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs218925	RP11-37B2.1	cis	Thyroid	GTEx
rs218925	RP11-37B2.1	cis	Artery Tibial	GTEx
rs218925	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs218925	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs218925	RP11-37B2.1	cis	Nerve Tibial	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:90742800-90762200	Weak transcription	Aorta	Aorta
6	chr8:90745000-90754600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:90748000-90749600	Enhancers	Stomach Mucosa	stomach
9	chr8:90748400-90750000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:90748400-90758200	Weak transcription	Ovary	ovary
11	chr8:90749000-90749600	Enhancers	Gastric	stomach
12	chr8:90749000-90749600	Enhancers	Lung	lung
13	chr8:90749000-90749800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:90749000-90749800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:90749000-90750000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:90749000-90750000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:90749000-90750400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:90749000-90751800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:90749200-90749600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:90749200-90749600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:90749200-90749600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:90749200-90749600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:90749200-90749600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:90749200-90749600	Enhancers	Esophagus	oesophagus
25	chr8:90749200-90749600	Enhancers	Fetal Thymus	thymus
26	chr8:90749200-90749800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:90749200-90749800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:90749200-90749800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:90749200-90749800	Enhancers	Left Ventricle	heart
30	chr8:90749200-90749800	Enhancers	Right Atrium	heart
31	chr8:90749200-90750000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:90749200-90750000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:90749200-90750000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:90749200-90752200	Enhancers	Primary T cells from cord blood	blood
35	chr8:90749200-90752800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:90749400-90749600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr8:90749400-90749600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:90749400-90749600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:90749400-90749600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:90749400-90749600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:90749400-90749800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:90749400-90749800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:90749400-90750000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:90749400-90750000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:90749400-90750000	Weak transcription	Fetal Stomach	stomach
46	chr8:90749400-90750000	Enhancers	HUVEC	blood vessel
47	chr8:90749400-90750600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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