Variant report

Variant	rs3805607
Chromosome Location	chr5:127477418-127477419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10045113	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10045307	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10057122	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10059867	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10060181	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10060390	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10061367	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10064098	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10064357	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10089	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1012851	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10223203	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10223313	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1036171	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10463838	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10463839	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10478796	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478798	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10478803	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11957052	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13355233	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13356473	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357268	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13358455	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1368270	0.83[CHB][hapmap]
rs1432614	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1432615	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559263	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1560636	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17164310	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17164427	0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17764954	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1842006	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1864923	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1962291	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985268	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2016015	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2054444	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2190797	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2228112	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2409109	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898096	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087889	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3792866	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805606	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805612	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805615	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816006	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835940	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4835941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835943	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835944	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4835945	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4836358	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4836359	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836360	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836361	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836363	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836366	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836367	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836368	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836369	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836370	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56066100	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58433932	0.82[AMR][1000 genomes]
rs59484271	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60964984	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62373701	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6595798	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6595800	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6595806	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6595807	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6862701	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6873339	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6875982	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6879970	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6887674	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6887847	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72794392	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72794396	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72794400	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72794401	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs736969	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7703634	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7713860	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7732599	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs883074	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap]
rs891886	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9968597	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3805607	FBN2	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127423600-127494000	Weak transcription	K562	blood
2	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
3	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart
4	chr5:127445200-127480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:127445400-127491800	Weak transcription	Psoas Muscle	Psoas
6	chr5:127447000-127525000	Weak transcription	Fetal Brain Male	brain
7	chr5:127451400-127490600	Weak transcription	Aorta	Aorta
8	chr5:127451600-127488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:127451800-127488600	Weak transcription	Osteobl	bone
10	chr5:127451800-127490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:127452000-127477600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:127452000-127490400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:127453600-127493800	Weak transcription	Liver	Liver
14	chr5:127453600-127525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:127454400-127493800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:127454800-127477600	Weak transcription	Small Intestine	intestine
17	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
18	chr5:127457800-127487800	Weak transcription	Stomach Mucosa	stomach
19	chr5:127457800-127489400	Weak transcription	NHEK	skin
20	chr5:127460800-127525200	Weak transcription	Spleen	Spleen
21	chr5:127461200-127488400	Weak transcription	HSMMtube	muscle
22	chr5:127461600-127480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:127463200-127533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:127464200-127488400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:127464400-127489800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:127464600-127477600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:127464800-127497600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:127465400-127486800	Weak transcription	GM12878-XiMat	blood
29	chr5:127465400-127532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:127467000-127489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:127467200-127500600	Weak transcription	Esophagus	oesophagus
32	chr5:127467600-127477600	Weak transcription	Ovary	ovary
33	chr5:127467600-127480200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:127467600-127490200	Weak transcription	Lung	lung
35	chr5:127467600-127491200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:127467600-127525000	Weak transcription	Thymus	Thymus
37	chr5:127467800-127488800	Weak transcription	Fetal Intestine Small	intestine
38	chr5:127467800-127508000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:127468000-127489600	Weak transcription	Fetal Stomach	stomach
40	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
41	chr5:127468400-127480200	Weak transcription	Brain Angular Gyrus	brain
42	chr5:127468400-127480200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:127468800-127493800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:127469200-127524200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:127469600-127478600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:127469600-127479200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:127469800-127478400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:127469800-127480600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr5:127469800-127504200	Weak transcription	Fetal Heart	heart
50	chr5:127470200-127477800	Strong transcription	Primary B cells from cord blood	blood

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