Variant report

Variant	rs7732059
Chromosome Location	chr5:42423472-42423473
allele	C/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	CTCF	chr5:42423394-42423666	Spleen_OC	spleen:	n/a	chr5:42423514-42423532
2	CTCF	chr5:42423440-42423590	HRE	kidney:	n/a	chr5:42423514-42423532
3	JUND	chr5:42423451-42423593	HepG2	liver:	n/a	n/a
4	CTCF	chr5:42423460-42423610	HCFaa	heart:	n/a	chr5:42423514-42423532
5	CTCF	chr5:42423400-42423550	HFF	foreskin:	n/a	chr5:42423514-42423532
6	TEAD4	chr5:42423282-42423824	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:42423460-42423610	HAc	cerebellar:	n/a	chr5:42423514-42423532
8	CTCF	chr5:42423440-42423590	GM12872	blood:	n/a	chr5:42423514-42423532
9	CTCF	chr5:42423363-42423703	T-47D	breast:	n/a	chr5:42423514-42423532
10	CTCF	chr5:42423384-42423648	Pancreas_OC	pancreas:	n/a	chr5:42423514-42423532
11	RAD21	chr5:42423326-42423719	HepG2	liver:	n/a	n/a
12	CTCF	chr5:42423410-42423623	GM10266	blood:	n/a	chr5:42423514-42423532
13	CTCF	chr5:42423460-42423610	HUVEC	blood vessel:	n/a	chr5:42423514-42423532
14	CREB1	chr5:42423427-42423753	A549	lung:	n/a	n/a
15	RFX5	chr5:42423460-42423722	H1-hESC	embryonic stem cell:	n/a	chr5:42423587-42423602
16	RAD21	chr5:42423363-42423691	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr5:42423460-42423610	NHLF	lung:	n/a	chr5:42423514-42423532
18	TBP	chr5:42423384-42423940	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:42423366-42423657	A549	lung:	n/a	chr5:42423514-42423532
20	MYC	chr5:42423263-42423721	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr5:42423420-42423570	MCF-7	breast:	n/a	chr5:42423514-42423532
22	SMC3	chr5:42423293-42423696	HepG2	liver:	n/a	n/a
23	RAD21	chr5:42423274-42423745	A549	lung:	n/a	chr5:42423724-42423734
24	CTCF	chr5:42423262-42423803	K562	blood:	n/a	chr5:42423514-42423532
25	CTCF	chr5:42423460-42423610	SAEC	small airway:	n/a	chr5:42423514-42423532
26	MYC	chr5:42423453-42423714	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:42423460-42423610	AoAF	blood vessel:	n/a	chr5:42423514-42423532
28	MAX	chr5:42423329-42423993	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr5:42423336-42423719	HepG2	liver:	n/a	n/a
30	CTCF	chr5:42423400-42423550	BE2_C	brain:	n/a	chr5:42423514-42423532
31	CTCF	chr5:42423440-42423590	HMF	breast:	n/a	chr5:42423514-42423532
32	RFX5	chr5:42423097-42423940	SK-N-SH	brain:	n/a	chr5:42423587-42423602 chr5:42423351-42423364
33	CTCF	chr5:42423460-42423610	RPTEC	kidney:	n/a	chr5:42423514-42423532
34	SPI1	chr5:42423385-42423550	K562	blood:	n/a	chr5:42423482-42423489 chr5:42423482-42423495
35	CTCF	chr5:42423420-42423570	GM12871	blood:	n/a	chr5:42423514-42423532
36	CTCF	chr5:42423411-42423709	MCF-7	breast:	n/a	chr5:42423514-42423532
37	HA-E2F1	chr5:42423408-42425524	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:42423460-42423610	WERI-Rb-1	eye:	n/a	chr5:42423514-42423532
39	CTCF	chr5:42423420-42423570	GM12869	blood:	n/a	chr5:42423514-42423532
40	RAD21	chr5:42423380-42423619	GM12878	blood:	n/a	n/a
41	CTCF	chr5:42423460-42423610	AG04449	skin:	n/a	chr5:42423514-42423532
42	FOS	chr5:42423400-42423597	MCF10A-Er-Src	breast:	n/a	n/a
43	CTCF	chr5:42423460-42423610	GM12873	blood:	n/a	chr5:42423514-42423532
44	CTCF	chr5:42423370-42423686	K562	blood:	n/a	chr5:42423514-42423532
45	MAX	chr5:42423360-42424141	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr5:42423337-42423730	Gliobla	brain:	n/a	chr5:42423514-42423532
47	CTCF	chr5:42423387-42423618	SK-N-SH_RA	brain:	n/a	chr5:42423514-42423532
48	YY1	chr5:42423360-42423987	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:42423416-42423644	GM10248	blood:	n/a	chr5:42423514-42423532
50	CTCF	chr5:42423440-42423590	HMEC	breast:	n/a	chr5:42423514-42423532

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42423051..42423758-chr5:42583407..42584045,2	MCF-7	breast:
2	chr5:42422660..42423547-chr5:42514575..42515445,3	MCF-7	breast:

Variant related genes	Relation type
GHR	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10059251	1.00[ASN][1000 genomes]
rs13153060	1.00[ASN][1000 genomes]
rs13156541	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171720	1.00[ASN][1000 genomes]
rs13180731	1.00[ASN][1000 genomes]
rs13187542	1.00[ASN][1000 genomes]
rs13188386	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17574527	1.00[ASN][1000 genomes]
rs17574616	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17575164	1.00[ASN][1000 genomes]
rs17636762	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28943878	1.00[ASN][1000 genomes]
rs34126503	1.00[ASN][1000 genomes]
rs34161441	1.00[ASN][1000 genomes]
rs34305870	1.00[ASN][1000 genomes]
rs34714947	1.00[ASN][1000 genomes]
rs35331831	1.00[ASN][1000 genomes]
rs35418208	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35585211	1.00[ASN][1000 genomes]
rs4242100	1.00[ASN][1000 genomes]
rs4242101	1.00[ASN][1000 genomes]
rs4320267	1.00[ASN][1000 genomes]
rs4457090	1.00[ASN][1000 genomes]
rs4866836	1.00[ASN][1000 genomes]
rs56781446	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61043035	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451618	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67314897	1.00[ASN][1000 genomes]
rs67846180	1.00[ASN][1000 genomes]
rs6872878	1.00[ASN][1000 genomes]
rs6885716	1.00[ASN][1000 genomes]
rs6891036	1.00[ASN][1000 genomes]
rs72753062	1.00[ASN][1000 genomes]
rs72753064	1.00[ASN][1000 genomes]
rs7703669	1.00[ASN][1000 genomes]
rs7715374	1.00[ASN][1000 genomes]
rs7716495	1.00[ASN][1000 genomes]
rs7718962	1.00[ASN][1000 genomes]
rs9292848	1.00[ASN][1000 genomes]
rs9292851	1.00[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42423000-42423600	Flanking Active TSS	Fetal Lung	lung
2	chr5:42423000-42423600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr5:42423000-42423600	Flanking Active TSS	NH-A	brain
4	chr5:42423000-42424400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr5:42423000-42424600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:42423000-42425000	Active TSS	Left Ventricle	heart
7	chr5:42423000-42425400	Active TSS	NHLF	lung
8	chr5:42423000-42426000	Active TSS	Right Atrium	heart
9	chr5:42423200-42423600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:42423200-42423600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:42423200-42423800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr5:42423200-42423800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:42423200-42423800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:42423200-42423800	Active TSS	K562	blood
15	chr5:42423200-42424000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:42423200-42424200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:42423200-42424200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:42423200-42424200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:42423200-42424200	Enhancers	Fetal Brain Male	brain
20	chr5:42423200-42424400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
21	chr5:42423200-42424400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:42423200-42424400	Active TSS	Fetal Brain Female	brain
23	chr5:42423200-42424400	Active TSS	Fetal Muscle Trunk	muscle
24	chr5:42423200-42424600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:42423200-42424600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:42423200-42424600	Active TSS	Adipose Nuclei	Adipose
27	chr5:42423200-42424600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:42423200-42424600	Active TSS	Fetal Intestine Small	intestine
29	chr5:42423200-42424600	Active TSS	Pancreas	Pancrea
30	chr5:42423200-42424800	Active TSS	Brain Anterior Caudate	brain
31	chr5:42423200-42424800	Active TSS	Colonic Mucosa	Colon
32	chr5:42423200-42424800	Active TSS	Duodenum Mucosa	Duodenum
33	chr5:42423200-42424800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr5:42423200-42425000	Active TSS	Brain Substantia Nigra	brain
35	chr5:42423200-42425000	Active TSS	Ovary	ovary
36	chr5:42423200-42425000	Active TSS	Right Ventricle	heart
37	chr5:42423200-42425000	Bivalent/Poised TSS	A549	lung
38	chr5:42423200-42425200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:42423200-42425200	Active TSS	Aorta	Aorta
40	chr5:42423200-42425200	Active TSS	Psoas Muscle	Psoas
41	chr5:42423200-42425400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:42423200-42425400	Active TSS	Colon Smooth Muscle	Colon
43	chr5:42423200-42425400	Active TSS	Esophagus	oesophagus
44	chr5:42423200-42425400	Active TSS	NHDF-Ad	bronchial
45	chr5:42423400-42423600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:42423400-42423600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr5:42423400-42423600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr5:42423400-42423600	Active TSS	Fetal Heart	heart
49	chr5:42423400-42423600	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr5:42423400-42423800	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood

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