Variant report

Variant	rs72792227
Chromosome Location	chr5:127270704-127270705
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	FOSL2	chr5:127270327-127271023	A549	lung:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
2	NR3C1	chr5:127270378-127270978	A549	lung:	n/a	chr5:127270595-127270604
3	FOS	chr5:127270321-127271017	MCF10A-Er-Src	breast:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
4	YY1	chr5:127270437-127270896	A549	lung:	n/a	n/a
5	MAX	chr5:127270660-127270913	H1-hESC	embryonic stem cell:	n/a	n/a
6	NR2F2	chr5:127270221-127271124	MCF-7	breast:	n/a	n/a
7	CTCF	chr5:127270687-127270915	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:127270558-127270917	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOS	chr5:127270453-127270991	Hela-S3	cervix:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
10	ATF3	chr5:127270313-127271426	A549	lung:	n/a	n/a
11	USF1	chr5:127270425-127270889	A549	lung:	n/a	n/a
12	HNF4A	chr5:127270390-127270885	HepG2	liver:	n/a	chr5:127270536-127270544
13	RCOR1	chr5:127270448-127270971	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:127270428-127270955	HCT-116	colon:	n/a	n/a
15	ELK1	chr5:127270530-127270900	Hela-S3	cervix:	n/a	n/a
16	BCL3	chr5:127270178-127271513	A549	lung:	n/a	n/a
17	JUND	chr5:127270362-127271014	Hela-S3	cervix:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
18	YY1	chr5:127270480-127270836	A549	lung:	n/a	n/a
19	TBP	chr5:127270492-127270918	Hela-S3	cervix:	n/a	n/a
20	FOS	chr5:127270151-127270989	MCF10A-Er-Src	breast:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
21	JUND	chr5:127270456-127270922	HepG2	liver:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
22	TCF12	chr5:127270535-127270938	H1-hESC	embryonic stem cell:	n/a	chr5:127270731-127270740
23	RAD21	chr5:127270409-127271121	A549	lung:	n/a	n/a
24	FOS	chr5:127270366-127270952	MCF10A-Er-Src	breast:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
25	MXI1	chr5:127270506-127270967	Hela-S3	cervix:	n/a	n/a
26	NR2F2	chr5:127270353-127271152	MCF-7	breast:	n/a	n/a
27	BCL11A	chr5:127270644-127270828	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr5:127270579-127270907	H1-hESC	embryonic stem cell:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
29	FOXA1	chr5:127270466-127271414	T-47D	breast:	n/a	n/a
30	POLR2A	chr5:127270547-127270869	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr5:127270454-127270790	MCF10A-Er-Src	breast:	n/a	n/a
32	FOSL2	chr5:127270354-127271030	MCF-7	breast:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
33	MAFK	chr5:127270496-127271069	Hela-S3	cervix:	n/a	n/a
34	REST	chr5:127270418-127270952	A549	lung:	n/a	n/a
35	RAD21	chr5:127270263-127271198	HCT-116	colon:	n/a	n/a
36	CEBPB	chr5:127270370-127271460	A549	lung:	n/a	n/a
37	FOSL2	chr5:127270425-127270944	HepG2	liver:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
38	RFX5	chr5:127270413-127271517	Hela-S3	cervix:	n/a	chr5:127271307-127271322
39	JUN	chr5:127270575-127270904	H1-hESC	embryonic stem cell:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
40	JUND	chr5:127270434-127270963	HepG2	liver:	n/a	chr5:127270723-127270735 chr5:127270595-127270603
41	TCF7L2	chr5:127270486-127270967	MCF-7	breast:	n/a	chr5:127270758-127270772
42	NR3C1	chr5:127270416-127270955	A549	lung:	n/a	chr5:127270595-127270604
43	TCF12	chr5:127270280-127271053	A549	lung:	n/a	chr5:127270731-127270740
44	REST	chr5:127270333-127271458	A549	lung:	n/a	n/a
45	NFIC	chr5:127270434-127271095	ECC-1	luminal epithelium:	n/a	n/a
46	TCF7L2	chr5:127270507-127270965	HCT-116	colon:	n/a	chr5:127270758-127270772
47	TEAD4	chr5:127270490-127270976	H1-hESC	embryonic stem cell:	n/a	n/a
48	TEAD4	chr5:127270379-127271010	ECC-1	luminal epithelium:	n/a	n/a
49	FOXA2	chr5:127270401-127271319	HepG2	liver:	n/a	n/a
50	SP1	chr5:127270509-127270933	H1-hESC	embryonic stem cell:	n/a	chr5:127270864-127270873 chr5:127270863-127270872

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:127270704-127270754	HEK293	kidney:	embryo
2	chr5:127270704-127270754	HIPEpiC	eye:	n/a
3	chr5:127270704-127270754	HEEpiC	esophagus:	n/a
4	chr5:127270704-127270754	IMR90	lung:	fetal
5	chr5:127270704-127270754	AG04449	skin:	fetal
6	chr5:127270704-127270754	Hela-S3	cervix:	n/a
7	chr5:127270704-127270754	HAEpiC	amniotic membrane:	n/a
8	chr5:127270704-127270754	HRPEpiC	eye:	n/a
9	chr5:127270704-127270754	NHDF-neo	bronchial:	n/a
10	chr5:127270704-127270754	HL-60	blood:	n/a
11	chr5:127270704-127270754	T-47D	breast:	n/a
12	chr5:127270704-127270754	BJ	skin:	n/a
13	chr5:127270704-127270754	RPTEC	kidney:	n/a
14	chr5:127270704-127270754	ProgFib	skin:	n/a
15	chr5:127270704-127270754	GM19239	blood:	n/a
16	chr5:127270704-127270754	NH-A	brain:	n/a
17	chr5:127270704-127270754	PANC-1	pancreas:	n/a
18	chr5:127270704-127270754	HCPEpiC	choroid plexus:	n/a
19	chr5:127270704-127270754	AG09309	skin:	n/a
20	chr5:127270704-127270754	SK-N-SH	brain:	n/a
21	chr5:127270704-127270754	ovcar-3	ovarian:	n/a
22	chr5:127270704-127270754	HNPCEpiC	eye:	n/a
23	chr5:127270704-127270754	PFSK-1	brain:	n/a
24	chr5:127270704-127270754	HUVEC	blood vessel:	n/a
25	chr5:127270704-127270754	MCF-7	breast:	n/a
26	chr5:127270704-127270754	MCF10A-Er-Src	breast:	n/a
27	chr5:127270704-127270754	H1-hESC	embryonic stem cell:	embryo
28	chr5:127270704-127270754	NHBE	bronchial:	n/a
29	chr5:127270704-127270754	LNCaP	prostate:	n/a
30	chr5:127270704-127270754	AG10803	skin:	n/a
31	chr5:127270704-127270754	K562	blood:	n/a
32	chr5:127270704-127270754	HepG2	liver:	n/a
33	chr5:127270704-127270754	ECC-1	luminal epithelium:	n/a
34	chr5:127270704-127270754	SKMC	muscle:	n/a
35	chr5:127270704-127270754	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:127270704-127270754	CMK	blood:	n/a
37	chr5:127270704-127270754	SAEC	small airway:	n/a
38	chr5:127270704-127270754	AG04450	lung:	fetal
39	chr5:127270704-127270754	PrEC	prostate:	n/a
40	chr5:127270704-127270754	Hepatocyte	liver:	n/a
41	chr5:127270704-127270754	AoSMC	blood vessel:	n/a
42	chr5:127270704-127270754	HRE	kidney:	n/a
43	chr5:127270704-127270754	SK-N-SH_RA	brain:	n/a
44	chr5:127270704-127270754	HRCEpiC	kidney:	n/a
45	chr5:127270704-127270754	GM12892	blood:	n/a
46	chr5:127270704-127270754	AG09319	gingival:	n/a
47	chr5:127270704-127270754	GM12878	blood:	n/a
48	chr5:127270704-127270754	NB4	blood:	n/a
49	chr5:127270704-127270754	HCF	heart:	n/a
50	chr5:127270704-127270754	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:127267836..127272333-chr5:127416528..127421531,14	MCF-7	breast:
2	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:
3	chr5:127269084..127270706-chr5:127275651..127278152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230561	TF binding region
ENSG00000230561	CpG island
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72790364	1.00[AFR][1000 genomes]
rs72792235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72792267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127262800-127272000	Weak transcription	Small Intestine	intestine
2	chr5:127266600-127270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:127266600-127270800	Weak transcription	NH-A	brain
4	chr5:127266600-127277000	Weak transcription	Aorta	Aorta
5	chr5:127266800-127271200	Weak transcription	Pancreas	Pancrea
6	chr5:127267400-127270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:127269400-127271400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr5:127269600-127271600	Enhancers	HepG2	liver
10	chr5:127269800-127271400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:127269800-127271600	Enhancers	Hela-S3	cervix
12	chr5:127269800-127292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:127270000-127271200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:127270000-127271200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr5:127270000-127271200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:127270000-127271400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:127270000-127271400	Enhancers	HMEC	breast
18	chr5:127270000-127271600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr5:127270200-127271000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:127270200-127271000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:127270200-127271200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:127270200-127271400	Enhancers	Osteobl	bone
23	chr5:127270200-127272600	Enhancers	NHEK	skin
24	chr5:127270400-127270800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr5:127270400-127270800	Enhancers	HSMMtube	muscle
26	chr5:127270400-127271000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr5:127270400-127271000	Enhancers	HSMM	muscle
28	chr5:127270400-127271200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:127270400-127271200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr5:127270400-127271200	Enhancers	Fetal Intestine Large	intestine
31	chr5:127270400-127271400	Enhancers	HUVEC	blood vessel
32	chr5:127270400-127271600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:127270400-127272600	Enhancers	Stomach Mucosa	stomach
34	chr5:127270600-127271000	Enhancers	Adipose Nuclei	Adipose
35	chr5:127270600-127271000	Enhancers	Ovary	ovary
36	chr5:127270600-127271000	Active TSS	A549	lung
37	chr5:127270600-127271000	Enhancers	NHDF-Ad	bronchial
38	chr5:127270600-127271200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr5:127270600-127271200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:127270600-127271400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:127270600-127271400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127270600-127271400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:127270600-127271600	Enhancers	Fetal Intestine Small	intestine
44	chr5:127270600-127271600	Enhancers	Sigmoid Colon	Sigmoid Colon

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