Variant report

Variant	rs73348295
Chromosome Location	chr5:127875318-127875319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:127872030-127875377	H1-hESC	embryonic stem cell:	n/a	n/a
2	RCOR1	chr5:127871794-127875413	IMR90	lung:	n/a	n/a
3	KAP1	chr5:127874312-127875334	HEK293	kidney:	n/a	n/a
4	MXI1	chr5:127871987-127875368	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127871072..127873305-chr5:127875022..127876615,2	K562	blood:

Variant related genes	Relation type
FBN2	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10520003	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241962	1.00[ASN][1000 genomes]
rs11241964	1.00[ASN][1000 genomes]
rs11241965	1.00[ASN][1000 genomes]
rs11948376	1.00[ASN][1000 genomes]
rs11948920	1.00[ASN][1000 genomes]
rs11949017	1.00[ASN][1000 genomes]
rs11949649	1.00[ASN][1000 genomes]
rs11949660	1.00[ASN][1000 genomes]
rs11949692	1.00[ASN][1000 genomes]
rs11950568	1.00[ASN][1000 genomes]
rs11950625	1.00[ASN][1000 genomes]
rs11951267	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952247	1.00[ASN][1000 genomes]
rs11952334	1.00[ASN][1000 genomes]
rs11952524	1.00[ASN][1000 genomes]
rs11952602	1.00[ASN][1000 genomes]
rs11953201	1.00[ASN][1000 genomes]
rs11954034	1.00[ASN][1000 genomes]
rs11954070	1.00[ASN][1000 genomes]
rs11955937	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956467	1.00[ASN][1000 genomes]
rs11956495	1.00[ASN][1000 genomes]
rs11957280	1.00[ASN][1000 genomes]
rs11957487	1.00[ASN][1000 genomes]
rs11958508	1.00[ASN][1000 genomes]
rs11958996	1.00[ASN][1000 genomes]
rs11959560	1.00[ASN][1000 genomes]
rs13153812	1.00[ASN][1000 genomes]
rs13160701	1.00[ASN][1000 genomes]
rs13168271	1.00[ASN][1000 genomes]
rs1435512	1.00[ASN][1000 genomes]
rs17164083	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164086	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615636	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17677244	1.00[ASN][1000 genomes]
rs34012094	1.00[ASN][1000 genomes]
rs34139509	1.00[ASN][1000 genomes]
rs34615740	1.00[ASN][1000 genomes]
rs34665677	1.00[ASN][1000 genomes]
rs34881645	1.00[ASN][1000 genomes]
rs35043622	1.00[ASN][1000 genomes]
rs36003105	1.00[ASN][1000 genomes]
rs36052309	1.00[ASN][1000 genomes]
rs36071106	1.00[ASN][1000 genomes]
rs36125852	1.00[ASN][1000 genomes]
rs3924302	1.00[ASN][1000 genomes]
rs4133248	1.00[ASN][1000 genomes]
rs4318822	1.00[ASN][1000 genomes]
rs4339399	1.00[ASN][1000 genomes]
rs4345355	1.00[ASN][1000 genomes]
rs4365880	1.00[ASN][1000 genomes]
rs4380709	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386769	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400171	0.87[EUR][1000 genomes]
rs4410683	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425555	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425556	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455613	1.00[ASN][1000 genomes]
rs4493715	1.00[ASN][1000 genomes]
rs4496752	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557470	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577751	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580821	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582335	1.00[ASN][1000 genomes]
rs4620068	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628037	1.00[ASN][1000 genomes]
rs4628038	1.00[ASN][1000 genomes]
rs4836374	1.00[ASN][1000 genomes]
rs55657505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683423	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55715053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55770077	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791343	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839668	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55944506	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018106	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072924	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173634	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232757	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56766733	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57454105	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143160	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58295967	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58955919	1.00[ASN][1000 genomes]
rs59143127	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59567527	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324229	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60574263	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61358597	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61375240	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390696	1.00[ASN][1000 genomes]
rs62390705	1.00[ASN][1000 genomes]
rs62390715	1.00[ASN][1000 genomes]
rs62390716	1.00[ASN][1000 genomes]
rs62390718	1.00[ASN][1000 genomes]
rs62390719	1.00[ASN][1000 genomes]
rs62390724	1.00[ASN][1000 genomes]
rs62390725	1.00[ASN][1000 genomes]
rs62390726	1.00[ASN][1000 genomes]
rs6595840	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66899065	1.00[ASN][1000 genomes]
rs67539441	1.00[ASN][1000 genomes]
rs67941180	1.00[ASN][1000 genomes]
rs6863062	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863262	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863380	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863460	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864449	1.00[ASN][1000 genomes]
rs6865828	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870737	1.00[ASN][1000 genomes]
rs6870746	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871698	1.00[ASN][1000 genomes]
rs6875600	1.00[ASN][1000 genomes]
rs6876597	1.00[ASN][1000 genomes]
rs6876609	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877748	1.00[ASN][1000 genomes]
rs6877872	1.00[ASN][1000 genomes]
rs6877956	1.00[ASN][1000 genomes]
rs6878062	1.00[ASN][1000 genomes]
rs6878172	1.00[ASN][1000 genomes]
rs6880762	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885752	1.00[ASN][1000 genomes]
rs6886451	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891153	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891166	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892406	1.00[ASN][1000 genomes]
rs6897170	1.00[ASN][1000 genomes]
rs6898190	1.00[ASN][1000 genomes]
rs73334912	1.00[ASN][1000 genomes]
rs73346354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348066	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348070	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348077	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348078	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348080	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348085	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348087	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348099	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348102	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348278	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348280	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348283	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348287	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348296	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348299	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350104	0.87[EUR][1000 genomes]
rs73350106	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350109	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350115	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350129	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350134	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350195	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352205	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352207	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352225	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7443826	1.00[ASN][1000 genomes]
rs7446246	1.00[ASN][1000 genomes]
rs7446359	1.00[ASN][1000 genomes]
rs7447218	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764369	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700287	0.87[EUR][1000 genomes]
rs7704921	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709202	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709476	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709634	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712769	1.00[ASN][1000 genomes]
rs7714023	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714465	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714623	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720190	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724233	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724383	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725452	1.00[ASN][1000 genomes]
rs7725949	1.00[ASN][1000 genomes]
rs7727413	1.00[ASN][1000 genomes]
rs7728409	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730875	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732171	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734405	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735831	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892864	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968008	0.90[EUR][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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3426737	chr5:127874753-127876851	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs73348295	FBN2	cis	Adipose Subcutaneous	GTEx
rs73348295	FBN2	cis	Artery Tibial	GTEx
rs73348295	FBN2	cis	lung	GTEx
rs73348295	FBN2	cis	Nerve Tibial	GTEx
rs73348295	FBN2	cis	Thyroid	GTEx
rs73348295	FBN2	cis	Whole Blood	GTEx
rs73348295	FBN2	cis	Artery Aorta	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127871000-127875400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:127871200-127875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:127871800-127875400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:127872000-127875400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127872200-127875400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr5:127872200-127875400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:127872400-127875400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:127872400-127875400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:127872600-127875400	Active TSS	Fetal Kidney	kidney
10	chr5:127872800-127875400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:127873200-127875400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:127873400-127875400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:127874000-127875400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:127874400-127875400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr5:127874400-127875400	Flanking Active TSS	HMEC	breast
16	chr5:127874600-127875400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:127874600-127875400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:127874800-127875400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:127875000-127875400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:127875000-127875400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:127875000-127875400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr5:127875000-127875400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:127875000-127875400	Flanking Active TSS	A549	lung
24	chr5:127875000-127875400	Flanking Active TSS	NH-A	brain
25	chr5:127875200-127875400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr5:127875200-127875400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr5:127875200-127875400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:127875200-127875400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:127875200-127875400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:127875200-127875400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr5:127875200-127875400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:127875200-127875400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:127875200-127875400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:127875200-127875400	Enhancers	Fetal Heart	heart
35	chr5:127875200-127875400	Enhancers	Fetal Lung	lung
36	chr5:127875200-127875400	Enhancers	HUVEC	blood vessel
37	chr5:127875200-127875400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:127875200-127875400	Enhancers	NHEK	skin
39	chr5:127875200-127875400	Bivalent Enhancer	Osteobl	bone
40	chr5:127875200-127882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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