Variant report

Variant	rs7712942
Chromosome Location	chr5:127873807-127873808
allele	C/T
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	chr5:127873698-127875045	A549	lung:	n/a	n/a
2	POLR2A	chr5:127873709-127874022	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:127873738-127874320	H1-hESC	embryonic stem cell:	n/a	chr5:127874030-127874039
4	POLR2A	chr5:127873300-127874665	HUVEC	blood vessel:	n/a	n/a
5	CEBPB	chr5:127873364-127873821	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr5:127873142-127874965	A549	lung:	n/a	chr5:127874714-127874722
7	POLR2A	chr5:127873671-127874011	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:127873540-127874599	HUVEC	blood vessel:	n/a	n/a
9	TAF1	chr5:127872851-127874735	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr5:127873514-127873991	A549	lung:	n/a	n/a
11	POLR2A	chr5:127873330-127874143	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr5:127873069-127874650	ProgFib	skin:	n/a	n/a
13	POLR2A	chr5:127873627-127874604	HUVEC	blood vessel:	n/a	n/a
14	REST	chr5:127873204-127874202	HL-60	blood:	n/a	n/a
15	MAZ	chr5:127872770-127875254	IMR90	lung:	n/a	chr5:127874030-127874039
16	BACH1	chr5:127873655-127874250	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:127873630-127874594	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr5:127873046-127874145	Hela-S3	cervix:	n/a	chr5:127874030-127874039
19	TBP	chr5:127873148-127875197	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr5:127873098-127873907	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr5:127873328-127874021	ECC-1	luminal epithelium:	n/a	n/a
22	MYC	chr5:127873499-127874592	MCF10A-Er-Src	breast:	n/a	chr5:127874030-127874039
23	POLR2A	chr5:127873632-127875183	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr5:127872912-127875135	NB4	blood:	n/a	chr5:127874030-127874039
25	E2F6	chr5:127872896-127874462	A549	lung:	n/a	chr5:127872971-127872982 chr5:127874013-127874022 chr5:127872975-127872982
26	E2F4	chr5:127873287-127874432	MCF10A-Er-Src	breast:	n/a	chr5:127874013-127874022
27	SP1	chr5:127873646-127875086	A549	lung:	n/a	chr5:127874513-127874527 chr5:127874348-127874359 chr5:127874518-127874532 chr5:127874345-127874359 chr5:127874405-127874426 chr5:127874519-127874528
28	POLR2A	chr5:127873123-127874777	NB4	blood:	n/a	n/a
29	TAF7	chr5:127873712-127874027	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr5:127873660-127873810	AG04449	skin:	n/a	n/a
31	CEBPB	chr5:127873460-127873807	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr5:127873618-127874154	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr5:127873247-127874019	H1-neurons	neurons:	n/a	n/a
34	REST	chr5:127873746-127874033	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr5:127872030-127875377	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr5:127873347-127874984	HUVEC	blood vessel:	n/a	n/a
37	SP1	chr5:127873718-127874937	A549	lung:	n/a	chr5:127874513-127874527 chr5:127874348-127874359 chr5:127874518-127874532 chr5:127874345-127874359 chr5:127874405-127874426 chr5:127874519-127874528
38	RCOR1	chr5:127871794-127875413	IMR90	lung:	n/a	n/a
39	POLR2A	chr5:127873772-127873961	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:127873787-127873995	A549	lung:	n/a	n/a
41	JUND	chr5:127873734-127874211	A549	lung:	n/a	n/a
42	MYC	chr5:127873579-127874159	H1-hESC	embryonic stem cell:	n/a	chr5:127874030-127874039
43	CREB1	chr5:127873712-127874982	A549	lung:	n/a	n/a
44	TAF1	chr5:127872976-127874506	ECC-1	luminal epithelium:	n/a	n/a
45	EP300	chr5:127873565-127874476	ECC-1	luminal epithelium:	n/a	n/a
46	MAZ	chr5:127873114-127874097	Hela-S3	cervix:	n/a	chr5:127874030-127874039
47	MAX	chr5:127872216-127874746	H1-hESC	embryonic stem cell:	n/a	chr5:127874030-127874039
48	POLR2A	chr5:127873593-127874609	A549	lung:	n/a	n/a
49	CTBP2	chr5:127871959-127875032	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:127873638-127874412	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
FBN2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10055140	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11241966	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4331947	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4373322	0.82[ASN][1000 genomes]
rs55670004	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595839	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6860901	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6865322	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6890614	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7732639	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7712942	FBN2	cis	lung	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127869200-127875000	Active TSS	Fetal Heart	heart
2	chr5:127870800-127875200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:127871000-127875400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:127871200-127875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:127871600-127875000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr5:127871800-127874400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr5:127871800-127874800	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr5:127871800-127875200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127871800-127875200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr5:127871800-127875200	Active TSS	Left Ventricle	heart
11	chr5:127871800-127875200	Active TSS	Right Ventricle	heart
12	chr5:127871800-127875400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:127872000-127874200	Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr5:127872000-127874400	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr5:127872000-127875200	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr5:127872000-127875400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:127872200-127874200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:127872200-127874600	Active TSS	A549	lung
19	chr5:127872200-127875000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:127872200-127875200	Active TSS	Right Atrium	heart
21	chr5:127872200-127875400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:127872200-127875400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:127872400-127874400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr5:127872400-127874400	Active TSS	Osteobl	bone
25	chr5:127872400-127874600	Active TSS	NHEK	skin
26	chr5:127872400-127875000	Active TSS	Ovary	ovary
27	chr5:127872400-127875400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:127872400-127875400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:127872600-127874000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:127872600-127874600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:127872600-127874600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:127872600-127874600	Active TSS	Fetal Lung	lung
33	chr5:127872600-127874600	Active TSS	Hela-S3	cervix
34	chr5:127872600-127874600	Active TSS	NH-A	brain
35	chr5:127872600-127874800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr5:127872600-127875000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:127872600-127875000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr5:127872600-127875200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:127872600-127875200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
40	chr5:127872600-127875200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr5:127872600-127875400	Active TSS	Fetal Kidney	kidney
42	chr5:127872800-127874200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr5:127872800-127874200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr5:127872800-127874400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:127872800-127874400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:127872800-127874600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr5:127872800-127874600	Bivalent/Poised TSS	Thymus	Thymus
48	chr5:127872800-127874800	Active TSS	Aorta	Aorta
49	chr5:127872800-127875000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr5:127872800-127875000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood

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