Variant report

Variant	rs72997933
Chromosome Location	chr1:151482613-151482614
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	chr1:151482509-151483242	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr1:151482310-151482869	H1-hESC	embryonic stem cell:	n/a	chr1:151482715-151482724 chr1:151482571-151482582 chr1:151482545-151482554
3	TEAD4	chr1:151482394-151482811	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:151482473-151482804	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr1:151482401-151482731	H1-hESC	embryonic stem cell:	n/a	chr1:151482531-151482540
6	HNF4A	chr1:151482514-151482824	HepG2	liver:	n/a	chr1:151482670-151482685 chr1:151482670-151482685 chr1:151482671-151482679 chr1:151482670-151482685 chr1:151482672-151482684 chr1:151482670-151482685
7	SP1	chr1:151482288-151482942	H1-hESC	embryonic stem cell:	n/a	chr1:151482715-151482724 chr1:151482571-151482582 chr1:151482545-151482554
8	HNF4G	chr1:151482443-151482790	HepG2	liver:	n/a	chr1:151482670-151482685 chr1:151482671-151482679 chr1:151482670-151482685 chr1:151482672-151482684 chr1:151482670-151482685
9	TCF12	chr1:151482457-151482759	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:151482468-151482790	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr1:151482453-151482775	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr1:151482436-151482877	H1-hESC	embryonic stem cell:	n/a	n/a
13	HDAC2	chr1:151482533-151482809	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:151482231-151483040	H1-hESC	embryonic stem cell:	n/a	chr1:151482310-151482321
15	TEAD4	chr1:151482453-151482846	H1-hESC	embryonic stem cell:	n/a	n/a
16	HNF4A	chr1:151482473-151482812	HepG2	liver:	n/a	chr1:151482670-151482685 chr1:151482670-151482685 chr1:151482671-151482679 chr1:151482670-151482685 chr1:151482672-151482684 chr1:151482670-151482685
17	SIN3A	chr1:151482476-151482958	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr1:151482458-151482783	H1-hESC	embryonic stem cell:	n/a	n/a
19	GTF2F1	chr1:151482558-151482797	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:151482512-151482805	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr1:151482495-151482798	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr1:151482470-151482901	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF7	chr1:151482448-151482861	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:151482373-151486978	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr1:151482418-151483721	H1-hESC	embryonic stem cell:	n/a	chr1:151483652-151483662 chr1:151483637-151483647
26	SIN3AK20	chr1:151482558-151482750	H1-hESC	embryonic stem cell:	n/a	n/a
27	NANOG	chr1:151482492-151482752	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr1:151482538..151486660-chr1:151496961..151502245,5	MCF-7	breast:
6	chr1:151431720..151433397-chr1:151480112..151483047,2	K562	blood:
7	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
8	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
9	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
10	chr1:151481002..151483252-chr1:151687957..151690791,2	MCF-7	breast:
11	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
12	chr1:151170179..151172284-chr1:151482238..151485195,2	MCF-7	breast:
13	chr1:151436182..151439012-chr1:151480953..151482703,2	MCF-7	breast:
14	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:

Variant related genes	Relation type
CGN	TF binding region
ENSG00000207606	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000252840	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11802310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34618787	1.00[AMR][1000 genomes]
rs60710240	1.00[AMR][1000 genomes]
rs6673041	1.00[AMR][1000 genomes]
rs6674647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997927	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997937	1.00[AMR][1000 genomes]
rs72997974	1.00[AMR][1000 genomes]
rs72997976	1.00[AMR][1000 genomes]
rs72997981	1.00[AMR][1000 genomes]
rs7533075	1.00[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	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:56 , 50 per page) page: 1 2

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	chr1:151477200-151483200	Weak transcription	HMEC	breast
5	chr1:151477400-151482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:151477400-151482800	Weak transcription	NHEK	skin
7	chr1:151477400-151483200	Weak transcription	Small Intestine	intestine
8	chr1:151477600-151482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:151481600-151482800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:151481600-151483000	Enhancers	Stomach Mucosa	stomach
11	chr1:151481800-151483200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:151481800-151483400	Weak transcription	Right Atrium	heart
13	chr1:151482000-151482800	Weak transcription	Colonic Mucosa	Colon
14	chr1:151482000-151484200	Active TSS	Duodenum Mucosa	Duodenum
15	chr1:151482200-151482800	Active TSS	Fetal Intestine Large	intestine
16	chr1:151482200-151482800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:151482400-151482800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:151482400-151482800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:151482400-151482800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:151482400-151482800	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:151482400-151482800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:151482400-151483000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:151482400-151483000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr1:151482400-151483600	Flanking Active TSS	Liver	Liver
25	chr1:151482400-151485000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:151482400-151486200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:151482600-151482800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:151482600-151482800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:151482600-151482800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:151482600-151482800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:151482600-151482800	Enhancers	Brain Angular Gyrus	brain
32	chr1:151482600-151482800	Enhancers	Brain Germinal Matrix	brain
33	chr1:151482600-151482800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:151482600-151482800	Bivalent Enhancer	Fetal Thymus	thymus
35	chr1:151482600-151482800	Enhancers	Spleen	Spleen
36	chr1:151482600-151482800	Enhancers	Dnd41	blood
37	chr1:151482600-151483000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:151482600-151483000	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:151482600-151483000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr1:151482600-151483000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:151482600-151483000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:151482600-151483000	Enhancers	Fetal Brain Male	brain
43	chr1:151482600-151483000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr1:151482600-151483000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:151482600-151483000	Bivalent Enhancer	Thymus	Thymus
46	chr1:151482600-151483200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:151482600-151483200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:151482600-151483200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:151482600-151483200	Bivalent Enhancer	Placenta	Placenta
50	chr1:151482600-151483200	Flanking Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links