Variant report

Variant	rs3805606
Chromosome Location	chr5:127470813-127470814
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127465564..127467363-chr5:127468838..127471080,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10045113	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10045307	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10057122	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10059867	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10060181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10060390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10061367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10064098	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10064357	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10089	1.00[CEU][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1012851	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10223203	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10223313	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1036171	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10463838	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10463839	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10478796	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10478803	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10519973	0.84[CHB][hapmap]
rs10519974	0.84[CHB][hapmap]
rs11957052	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13355233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13356473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13357268	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13358455	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1368270	0.89[CHB][hapmap]
rs1432614	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1432615	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1559263	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1560636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17164310	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17164427	0.88[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17764954	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1842006	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1864922	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1962291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1985268	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2016015	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2054444	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2190797	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2228112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409109	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3087889	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3792866	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805604	0.84[CHB][hapmap]
rs3805607	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];0.89[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805615	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3816006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835940	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4835941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835942	0.84[CHB][hapmap];0.83[MEX][hapmap]
rs4835943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835944	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4835945	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4836358	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836359	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4836360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836362	0.84[CHB][hapmap]
rs4836363	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836365	0.84[CHB][hapmap]
rs4836366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836368	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836369	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836370	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56066100	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58433932	0.86[AMR][1000 genomes]
rs59484271	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60964984	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62373701	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6595798	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6595800	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6595806	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6595807	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6862701	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6873339	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6875982	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6879970	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6887674	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6887847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794392	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72794396	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72794400	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72794401	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736969	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703634	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7713860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7718286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7732599	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs790156	0.85[LWK][hapmap];0.95[YRI][hapmap]
rs806100	0.82[LWK][hapmap];0.91[YRI][hapmap]
rs883074	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs891886	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968597	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3805606	FBN2	cis	parietal	SCAN

Chromatin state (count:104 , 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	chr5:127451800-127471800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:127451800-127488600	Weak transcription	Osteobl	bone
11	chr5:127451800-127490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:127452000-127473200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:127452000-127477200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:127452000-127477600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:127452000-127490400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:127452600-127472400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:127453000-127473800	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:127453200-127473000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:127453600-127493800	Weak transcription	Liver	Liver
20	chr5:127453600-127525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:127454200-127477400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:127454400-127493800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:127454800-127477600	Weak transcription	Small Intestine	intestine
24	chr5:127455000-127471600	Weak transcription	NH-A	brain
25	chr5:127455000-127472000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:127455000-127472200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:127455000-127472200	Weak transcription	Fetal Kidney	kidney
28	chr5:127455000-127473200	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:127455000-127477400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
31	chr5:127457800-127487800	Weak transcription	Stomach Mucosa	stomach
32	chr5:127457800-127489400	Weak transcription	NHEK	skin
33	chr5:127458200-127473200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:127460800-127525200	Weak transcription	Spleen	Spleen
35	chr5:127461000-127472400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:127461200-127488400	Weak transcription	HSMMtube	muscle
37	chr5:127461600-127480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:127462400-127471800	Weak transcription	Brain Substantia Nigra	brain
39	chr5:127463200-127533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:127464200-127488400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:127464400-127489800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:127464600-127477600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:127464800-127497600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:127465000-127477200	Weak transcription	HUVEC	blood vessel
45	chr5:127465400-127486800	Weak transcription	GM12878-XiMat	blood
46	chr5:127465400-127532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:127466600-127474600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:127466800-127473800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:127467000-127471400	Weak transcription	Fetal Lung	lung
50	chr5:127467000-127489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links