Variant report

Variant	rs7732639
Chromosome Location	chr5:127873605-127873606
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	chr5:127873300-127874665	HUVEC	blood vessel:	n/a	n/a
2	CEBPB	chr5:127873364-127873821	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr5:127873142-127874965	A549	lung:	n/a	chr5:127874714-127874722
4	POLR2A	chr5:127873540-127874599	HUVEC	blood vessel:	n/a	n/a
5	NRF1	chr5:127873586-127873748	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr5:127872851-127874735	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr5:127873514-127873991	A549	lung:	n/a	n/a
8	POLR2A	chr5:127873330-127874143	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr5:127873069-127874650	ProgFib	skin:	n/a	n/a
10	REST	chr5:127873204-127874202	HL-60	blood:	n/a	n/a
11	MAZ	chr5:127872770-127875254	IMR90	lung:	n/a	chr5:127874030-127874039
12	CEBPB	chr5:127873396-127873776	A549	lung:	n/a	n/a
13	MAX	chr5:127873046-127874145	Hela-S3	cervix:	n/a	chr5:127874030-127874039
14	TBP	chr5:127873148-127875197	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:127872889-127873625	ECC-1	luminal epithelium:	n/a	n/a
16	CHD1	chr5:127873098-127873907	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr5:127873328-127874021	ECC-1	luminal epithelium:	n/a	n/a
18	MYC	chr5:127873499-127874592	MCF10A-Er-Src	breast:	n/a	chr5:127874030-127874039
19	MAX	chr5:127872912-127875135	NB4	blood:	n/a	chr5:127874030-127874039
20	E2F6	chr5:127872896-127874462	A549	lung:	n/a	chr5:127872971-127872982 chr5:127874013-127874022 chr5:127872975-127872982
21	SMC3	chr5:127873430-127873785	Hela-S3	cervix:	n/a	n/a
22	E2F4	chr5:127873287-127874432	MCF10A-Er-Src	breast:	n/a	chr5:127874013-127874022
23	CTCF	chr5:127873460-127873610	HCPEpiC	choroid plexus:	n/a	n/a
24	POLR2A	chr5:127873123-127874777	NB4	blood:	n/a	n/a
25	RCOR1	chr5:127873563-127873686	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr5:127873460-127873807	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr5:127873247-127874019	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr5:127872030-127875377	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:127873347-127874984	HUVEC	blood vessel:	n/a	n/a
30	RCOR1	chr5:127871794-127875413	IMR90	lung:	n/a	n/a
31	CEBPB	chr5:127873326-127873777	A549	lung:	n/a	n/a
32	MYC	chr5:127873579-127874159	H1-hESC	embryonic stem cell:	n/a	chr5:127874030-127874039
33	TAF1	chr5:127872976-127874506	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr5:127873565-127874476	ECC-1	luminal epithelium:	n/a	n/a
35	MAZ	chr5:127873114-127874097	Hela-S3	cervix:	n/a	chr5:127874030-127874039
36	MAX	chr5:127872385-127873640	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr5:127872216-127874746	H1-hESC	embryonic stem cell:	n/a	chr5:127874030-127874039
38	POLR2A	chr5:127873593-127874609	A549	lung:	n/a	n/a
39	CTBP2	chr5:127871959-127875032	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZBTB7A	chr5:127873151-127873679	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr5:127873025-127873998	H1-neurons	neurons:	n/a	n/a
42	MYC	chr5:127873079-127875173	NB4	blood:	n/a	chr5:127874030-127874039
43	POLR2A	chr5:127873334-127874019	Hela-S3	cervix:	n/a	n/a
44	RFX5	chr5:127873237-127873623	Hela-S3	cervix:	n/a	n/a
45	E2F6	chr5:127872377-127874153	H1-hESC	embryonic stem cell:	n/a	chr5:127872971-127872982 chr5:127874013-127874022 chr5:127872731-127872741 chr5:127872975-127872982
46	GATA3	chr5:127873469-127874839	A549	lung:	n/a	chr5:127874265-127874275
47	MAX	chr5:127872867-127875155	A549	lung:	n/a	chr5:127874030-127874039
48	RAD21	chr5:127873116-127873661	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr5:127872924-127874467	IMR90	lung:	n/a	n/a
50	MXI1	chr5:127871987-127875368	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
FBN2	TF binding region
SLC27A6	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10055140	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11241966	0.89[EUR][1000 genomes]
rs4331947	0.90[EUR][1000 genomes]
rs55670004	0.89[EUR][1000 genomes]
rs6595839	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6860901	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6865322	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6890614	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7712942	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:6 , 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	nsv1019560	chr5:127814656-127873680	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv537895	chr5:127814656-127873680	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7732639	FBN2	cis	lung	GTEx

Chromatin state (count:110 , 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	chr5:127871200-127873800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:127871200-127875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:127871600-127875000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr5:127871800-127874400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:127871800-127874800	Bivalent/Poised TSS	NHDF-Ad	bronchial
9	chr5:127871800-127875200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:127871800-127875200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr5:127871800-127875200	Active TSS	Left Ventricle	heart
12	chr5:127871800-127875200	Active TSS	Right Ventricle	heart
13	chr5:127871800-127875400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:127872000-127874200	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr5:127872000-127874400	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr5:127872000-127875200	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr5:127872000-127875400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:127872200-127874200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:127872200-127874600	Active TSS	A549	lung
20	chr5:127872200-127875000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127872200-127875200	Active TSS	Right Atrium	heart
22	chr5:127872200-127875400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:127872200-127875400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:127872400-127874400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
25	chr5:127872400-127874400	Active TSS	Osteobl	bone
26	chr5:127872400-127874600	Active TSS	NHEK	skin
27	chr5:127872400-127875000	Active TSS	Ovary	ovary
28	chr5:127872400-127875400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:127872400-127875400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr5:127872600-127873800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:127872600-127873800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:127872600-127874000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr5:127872600-127874600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:127872600-127874600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:127872600-127874600	Active TSS	Fetal Lung	lung
36	chr5:127872600-127874600	Active TSS	Hela-S3	cervix
37	chr5:127872600-127874600	Active TSS	NH-A	brain
38	chr5:127872600-127874800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr5:127872600-127875000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:127872600-127875000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:127872600-127875200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:127872600-127875200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr5:127872600-127875200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr5:127872600-127875400	Active TSS	Fetal Kidney	kidney
45	chr5:127872800-127873800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr5:127872800-127874200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr5:127872800-127874200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
48	chr5:127872800-127874400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:127872800-127874400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:127872800-127874600	Flanking Active TSS	Primary B cells from cord blood	blood

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