Variant report

Variant	rs7547590
Chromosome Location	chr1:151482468-151482469
allele	A/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	chr1:151482310-151482869	H1-hESC	embryonic stem cell:	n/a	chr1:151482715-151482724 chr1:151482571-151482582 chr1:151482545-151482554
2	TEAD4	chr1:151482394-151482811	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr1:151482401-151482731	H1-hESC	embryonic stem cell:	n/a	chr1:151482531-151482540
4	SP1	chr1:151482288-151482942	H1-hESC	embryonic stem cell:	n/a	chr1:151482715-151482724 chr1:151482571-151482582 chr1:151482545-151482554
5	HNF4G	chr1:151482443-151482790	HepG2	liver:	n/a	chr1:151482670-151482685 chr1:151482671-151482679 chr1:151482670-151482685 chr1:151482672-151482684 chr1:151482670-151482685
6	TCF12	chr1:151482457-151482759	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:151482468-151482790	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr1:151482453-151482775	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr1:151482436-151482877	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr1:151482231-151483040	H1-hESC	embryonic stem cell:	n/a	chr1:151482310-151482321
11	TEAD4	chr1:151482453-151482846	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr1:151482458-151482783	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF7	chr1:151482448-151482861	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:151482373-151486978	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr1:151482418-151483721	H1-hESC	embryonic stem cell:	n/a	chr1:151483652-151483662 chr1:151483637-151483647

No.	Distal block	Cell Line	Cell type
1	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
2	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
3	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
4	chr1:151444671..151447654-chr1:151480134..151482733,3	MCF-7	breast:
5	chr1:151431720..151433397-chr1:151480112..151483047,2	K562	blood:
6	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
7	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
8	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
9	chr1:151481002..151483252-chr1:151687957..151690791,2	MCF-7	breast:
10	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
11	chr1:151170179..151172284-chr1:151482238..151485195,2	MCF-7	breast:
12	chr1:151436182..151439012-chr1:151480953..151482703,2	MCF-7	breast:
13	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:

Variant related genes	Relation type
CGN	TF binding region
ENSG00000143398	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12409024	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4970916	0.90[EUR][1000 genomes]
rs72633636	0.81[EUR][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151475400-151483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151475800-151482800	Weak transcription	Hela-S3	cervix
3	chr1:151475800-151483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:151477200-151482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:151477200-151483200	Weak transcription	HMEC	breast
6	chr1:151477400-151482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:151477400-151482800	Weak transcription	NHEK	skin
8	chr1:151477400-151483200	Weak transcription	Small Intestine	intestine
9	chr1:151477600-151482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:151481400-151482600	Enhancers	Fetal Intestine Small	intestine
11	chr1:151481600-151482800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:151481600-151483000	Enhancers	Stomach Mucosa	stomach
13	chr1:151481800-151483200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:151481800-151483400	Weak transcription	Right Atrium	heart
15	chr1:151482000-151482800	Weak transcription	Colonic Mucosa	Colon
16	chr1:151482000-151484200	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:151482200-151482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:151482200-151482800	Active TSS	Fetal Intestine Large	intestine
19	chr1:151482200-151482800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:151482400-151482600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:151482400-151482600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:151482400-151482600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:151482400-151482600	Enhancers	A549	lung
24	chr1:151482400-151482600	Bivalent/Poised TSS	HepG2	liver
25	chr1:151482400-151482800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:151482400-151482800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:151482400-151482800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:151482400-151482800	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:151482400-151482800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:151482400-151483000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:151482400-151483000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr1:151482400-151483600	Flanking Active TSS	Liver	Liver
33	chr1:151482400-151485000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:151482400-151486200	Active TSS	H9 Cell Line	embryonic stem cell

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