Variant report

Variant	rs7723130
Chromosome Location	chr5:107007001-107007002
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	SP1	chr5:107006988-107009816	A549	lung:	n/a	chr5:107008046-107008055 chr5:107008046-107008056 chr5:107008417-107008429 chr5:107008419-107008428 chr5:107008424-107008433 chr5:107009058-107009070 chr5:107008047-107008056 chr5:107008412-107008426 chr5:107008045-107008057 chr5:107008425-107008434 chr5:107008045-107008057 chr5:107009059-107009069 chr5:107009058-107009070 chr5:107008405-107008415 chr5:107009060-107009069 chr5:107008049-107008063 chr5:107009059-107009068 chr5:107008417-107008429
2	STAT5A	chr5:107006737-107007521	GM12878	blood:	n/a	n/a
3	SIN3A	chr5:107004143-107009658	H1-hESC	embryonic stem cell:	n/a	chr5:107006662-107006673 chr5:107007128-107007141 chr5:107008731-107008740 chr5:107006059-107006068 chr5:107007404-107007415 chr5:107007253-107007266
4	POLR2A	chr5:107006462-107008238	GM12878	blood:	n/a	n/a
5	MAX	chr5:107006926-107009772	ECC-1	luminal epithelium:	n/a	chr5:107008043-107008052 chr5:107007511-107007518 chr5:107008046-107008056
6	TCF7L2	chr5:107006703-107009616	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr5:107006864-107009954	A549	lung:	n/a	chr5:107009562-107009571 chr5:107007948-107007958 chr5:107008477-107008490 chr5:107009529-107009545
8	SIN3AK20	chr5:107006749-107009091	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:107004197-107007511	H1-neurons	neurons:	n/a	n/a
10	MAZ	chr5:107006932-107007423	GM12878	blood:	n/a	n/a
11	E2F6	chr5:107006540-107008733	H1-hESC	embryonic stem cell:	n/a	chr5:107007775-107007782 chr5:107006894-107006901 chr5:107007250-107007260 chr5:107007775-107007782 chr5:107007774-107007783 chr5:107006659-107006669 chr5:107006656-107006666 chr5:107007771-107007783 chr5:107007775-107007782 chr5:107006893-107006901
12	POLR2A	chr5:107006943-107007549	GM12878	blood:	n/a	n/a
13	SMC3	chr5:107006964-107009788	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:107005737-107007010	H1-neurons	neurons:	n/a	n/a
15	MAX	chr5:107005867-107009014	HCT-116	colon:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
16	POLR2A	chr5:107006941-107007378	GM12892	blood:	n/a	n/a
17	TBP	chr5:107006690-107008687	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr5:107005041-107009765	A549	lung:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
19	TAF1	chr5:107006781-107008278	A549	lung:	n/a	n/a
20	MYC	chr5:107005922-107009065	A549	lung:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
21	SMARCB1	chr5:107005120-107008256	Hela-S3	cervix:	n/a	n/a
22	MAX	chr5:107005286-107008387	SK-N-SH	brain:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
23	POLR2A	chr5:107006890-107007196	MCF-7	breast:	n/a	n/a
24	MAX	chr5:107006626-107008969	SK-N-SH	brain:	n/a	chr5:107008043-107008052 chr5:107007511-107007518 chr5:107008046-107008056
25	HA-E2F1	chr5:107005127-107009710	MCF-7	breast:	n/a	chr5:107007775-107007782 chr5:107005769-107005777 chr5:107006894-107006901 chr5:107006120-107006130 chr5:107007250-107007260 chr5:107006119-107006128 chr5:107007775-107007782 chr5:107007774-107007783 chr5:107005379-107005393 chr5:107006659-107006669 chr5:107009059-107009068 chr5:107005382-107005396 chr5:107006656-107006666 chr5:107007771-107007783 chr5:107007775-107007782 chr5:107005769-107005777 chr5:107006034-107006046 chr5:107005769-107005776 chr5:107006089-107006098
26	SIN3AK20	chr5:107006870-107007629	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr5:107005903-107009840	IMR90	lung:	n/a	chr5:107008192-107008201 chr5:107008504-107008513 chr5:107006889-107006904
28	BHLHE40	chr5:107006941-107008887	GM12878	blood:	n/a	chr5:107008170-107008186 chr5:107008179-107008195
29	CTBP2	chr5:107005023-107009734	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr5:107005703-107009654	GM12878	blood:	n/a	chr5:107008192-107008201 chr5:107008504-107008513 chr5:107006889-107006904
31	ZNF263	chr5:107006585-107009759	HEK293-T-REx	kidney:	n/a	chr5:107007686-107007707
32	POLR2A	chr5:107006739-107007065	MCF-7	breast:	n/a	n/a
33	MAX	chr5:107006747-107008769	Hela-S3	cervix:	n/a	chr5:107008043-107008052 chr5:107007511-107007518 chr5:107008046-107008056
34	EBF1	chr5:107006846-107009752	GM12878	blood:	n/a	chr5:107009370-107009381 chr5:107009332-107009342 chr5:107009331-107009344 chr5:107009333-107009342 chr5:107009333-107009343
35	SIN3A	chr5:107006928-107007424	GM12878	blood:	n/a	chr5:107007128-107007141 chr5:107007404-107007415 chr5:107007253-107007266
36	POLR2A	chr5:107005295-107009089	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr5:107006552-107007242	MCF-7	breast:	n/a	n/a
38	SIN3AK20	chr5:107006910-107008355	A549	lung:	n/a	n/a
39	ZNF143	chr5:107006847-107007482	GM12878	blood:	n/a	chr5:107007131-107007141 chr5:107007250-107007260 chr5:107007052-107007062 chr5:107006847-107006857
40	ELF1	chr5:107006670-107007531	GM12878	blood:	n/a	chr5:107006800-107006812 chr5:107006805-107006817
41	MAZ	chr5:107005857-107009762	IMR90	lung:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
42	POLR2A	chr5:107006112-107009810	MCF10A-Er-Src	breast:	n/a	n/a
43	CHD1	chr5:107006797-107007234	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF7L2	chr5:107006614-107008779	HCT-116	colon:	n/a	n/a
45	POLR2A	chr5:107006995-107009655	MCF10A-Er-Src	breast:	n/a	n/a
46	RAD21	chr5:107003937-107010170	SK-N-SH	brain:	n/a	chr5:107007238-107007250 chr5:107006656-107006670
47	SMARCC1	chr5:107006939-107009670	Hela-S3	cervix:	n/a	n/a
48	RUNX3	chr5:107006825-107007476	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:107006541-107007137	HUVEC	blood vessel:	n/a	n/a
50	WRNIP1	chr5:107006727-107007957	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:106993178..106995868-chr5:107006750..107009458,3	MCF-7	breast:
2	chr5:106922846..106925376-chr5:107006745..107008300,2	MCF-7	breast:
3	chr5:107002898..107004805-chr5:107006650..107008856,2	MCF-7	breast:
4	chr5:106796505..106798929-chr5:107006795..107009330,2	MCF-7	breast:

Variant related genes	Relation type
EFNA5	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10055714	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10076353	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11242644	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12656968	0.83[ASN][1000 genomes]
rs12657057	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12657154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159331	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13161115	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13161130	0.84[AMR][1000 genomes]
rs13167862	0.84[AMR][1000 genomes]
rs13170512	0.84[AMR][1000 genomes]
rs13184509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572255	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17351315	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080938	0.80[AMR][1000 genomes]
rs2080942	0.80[AMR][1000 genomes]
rs34685651	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35627284	0.84[AMR][1000 genomes]
rs4957707	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56215442	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56233000	0.84[AMR][1000 genomes]
rs62357892	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62357896	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62357900	0.84[AMR][1000 genomes]
rs7705512	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7707690	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7709385	0.84[AMR][1000 genomes]
rs7717640	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7721633	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732784	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs897413	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs933066	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107002400-107009600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:107002400-107009800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:107003000-107009600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:107003000-107009600	Active TSS	A549	lung
5	chr5:107003200-107009600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:107003800-107009600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:107003800-107009600	Active TSS	NHDF-Ad	bronchial
8	chr5:107004000-107008600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:107004000-107008600	Active TSS	HSMM	muscle
10	chr5:107004000-107009000	Active TSS	Left Ventricle	heart
11	chr5:107004000-107009400	Active TSS	Placenta Amnion	Placenta Amnion
12	chr5:107004000-107009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:107004000-107009600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr5:107004000-107009600	Active TSS	Aorta	Aorta
15	chr5:107004000-107009600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:107004000-107009600	Active TSS	Right Atrium	heart
17	chr5:107004200-107009400	Active TSS	NHLF	lung
18	chr5:107004200-107009600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:107004200-107009600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:107004200-107009600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:107004400-107007600	Active TSS	NH-A	brain
22	chr5:107004400-107009600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:107004400-107009600	Active TSS	Brain Anterior Caudate	brain
24	chr5:107004400-107009600	Active TSS	Rectal Smooth Muscle	rectum
25	chr5:107004600-107007600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr5:107004600-107007800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:107004600-107008600	Active TSS	HMEC	breast
28	chr5:107004600-107008600	Active TSS	NHEK	skin
29	chr5:107004600-107009000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr5:107004600-107009400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:107004600-107009400	Active TSS	Gastric	stomach
32	chr5:107004600-107009600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr5:107004600-107009600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:107004600-107009600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:107004600-107009600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:107004600-107009600	Active TSS	Fetal Kidney	kidney
37	chr5:107004600-107009600	Active TSS	Fetal Lung	lung
38	chr5:107004600-107009600	Active TSS	Stomach Mucosa	stomach
39	chr5:107004800-107007200	Active TSS	Hela-S3	cervix
40	chr5:107004800-107008800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:107004800-107009400	Active TSS	Ovary	ovary
42	chr5:107004800-107009600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr5:107004800-107009600	Active TSS	Esophagus	oesophagus
44	chr5:107005000-107007200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:107005000-107009600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr5:107005000-107009600	Active TSS	HSMMtube	muscle
47	chr5:107005200-107008600	Active TSS	HUVEC	blood vessel
48	chr5:107005200-107009400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:107005200-107009600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr5:107005200-107009600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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