Variant report

Variant	rs4729662
Chromosome Location	chr7:100765559-100765560
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	chr7:100765204-100766389	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr7:100765381-100765581	MCF10A-Er-Src	breast:	n/a	n/a
3	FOSL2	chr7:100765185-100765648	A549	lung:	n/a	n/a
4	TEAD4	chr7:100765201-100765634	H1-hESC	embryonic stem cell:	n/a	chr7:100765364-100765373
5	MAX	chr7:100765276-100765789	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr7:100765287-100765575	Hela-S3	cervix:	n/a	n/a
7	YY1	chr7:100765223-100765643	HCT-116	colon:	n/a	n/a
8	REST	chr7:100765104-100765676	SK-N-SH	brain:	n/a	n/a
9	HDAC2	chr7:100765142-100765948	HepG2	liver:	n/a	n/a
10	GABPA	chr7:100765128-100765761	SK-N-SH	brain:	n/a	n/a
11	GATA2	chr7:100765183-100766235	HUVEC	blood vessel:	n/a	chr7:100765894-100765904 chr7:100765888-100765909 chr7:100765895-100765902 chr7:100765890-100765904 chr7:100765896-100765913 chr7:100765895-100765902 chr7:100765895-100765902
12	IRF1	chr7:100765519-100765983	K562	blood:	n/a	n/a
13	TAF1	chr7:100765167-100765703	SK-N-SH	brain:	n/a	n/a
14	REST	chr7:100765060-100765786	A549	lung:	n/a	n/a
15	GTF2F1	chr7:100765197-100766068	Hela-S3	cervix:	n/a	n/a
16	TEAD4	chr7:100765066-100766106	HepG2	liver:	n/a	chr7:100765364-100765373
17	SP1	chr7:100764960-100765793	A549	lung:	n/a	n/a
18	FOSL2	chr7:100765147-100766064	HepG2	liver:	n/a	n/a
19	RUNX3	chr7:100765387-100765726	GM12878	blood:	n/a	n/a
20	CHD2	chr7:100765205-100765595	Hela-S3	cervix:	n/a	n/a
21	TEAD4	chr7:100765137-100765839	A549	lung:	n/a	chr7:100765364-100765373
22	FOS	chr7:100765071-100766143	HUVEC	blood vessel:	n/a	chr7:100766059-100766070
23	FOS	chr7:100765277-100765574	MCF10A-Er-Src	breast:	n/a	n/a
24	ELF1	chr7:100765176-100765609	A549	lung:	n/a	n/a
25	POLR2A	chr7:100764965-100766502	HUVEC	blood vessel:	n/a	n/a
26	NFIC	chr7:100765117-100765602	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:100764785-100768279	HepG2	liver:	n/a	n/a
28	TBP	chr7:100765180-100766076	Hela-S3	cervix:	n/a	n/a
29	MAX	chr7:100765149-100766065	SK-N-SH	brain:	n/a	chr7:100765933-100765942
30	POLR2A	chr7:100765209-100765620	HepG2	liver:	n/a	n/a
31	SP1	chr7:100765178-100766140	HepG2	liver:	n/a	n/a
32	JUND	chr7:100765389-100766130	K562	blood:	n/a	chr7:100766059-100766070
33	TAF1	chr7:100765290-100765567	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:100765442-100765841	GM12878	blood:	n/a	n/a
35	GATA3	chr7:100765086-100766242	SK-N-SH	brain:	n/a	chr7:100765894-100765904 chr7:100765888-100765909 chr7:100765895-100765902 chr7:100765896-100765913 chr7:100765895-100765902 chr7:100765895-100765902
36	JUND	chr7:100765208-100765634	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr7:100765156-100765628	A549	lung:	n/a	n/a
38	EP300	chr7:100765023-100766067	A549	lung:	n/a	chr7:100765931-100765945 chr7:100766043-100766057
39	RCOR1	chr7:100764764-100767326	IMR90	lung:	n/a	n/a
40	YY1	chr7:100765198-100765666	A549	lung:	n/a	n/a
41	FOS	chr7:100765232-100765598	MCF10A-Er-Src	breast:	n/a	n/a
42	MYBL2	chr7:100765067-100766178	HepG2	liver:	n/a	n/a
43	MAX	chr7:100765080-100765803	A549	lung:	n/a	n/a
44	EGR1	chr7:100765448-100765670	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr7:100765104-100766319	IMR90	lung:	n/a	n/a
46	POLR2A	chr7:100765044-100766303	HUVEC	blood vessel:	n/a	n/a
47	GABPA	chr7:100765114-100765769	SK-N-SH	brain:	n/a	n/a
48	SIN3AK20	chr7:100765157-100765696	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr7:100765088-100765718	PFSK-1	brain:	n/a	n/a
50	ETS1	chr7:100765095-100765663	A549	lung:	n/a	chr7:100765404-100765417 chr7:100765407-100765418 chr7:100765248-100765255

No.	Distal block	Cell Line	Cell type
1	chr7:100729038..100731334-chr7:100763689..100766160,2	K562	blood:
2	chr7:100759553..100761801-chr7:100764388..100767111,2	K562	blood:
3	chr7:100764835..100766607-chr7:100766723..100768897,2	MCF-7	breast:
4	chr7:100764510..100767354-chr7:100769869..100771575,2	MCF-7	breast:
5	chr7:100737222..100740106-chr7:100764516..100767197,2	K562	blood:
6	chr7:100764109..100766499-chr7:100780947..100783449,2	K562	blood:
7	chr7:100763715..100766460-chr7:100770326..100771841,2	MCF-7	breast:
8	chr15:62682611..62683541-chr7:100765309..100765891,2	Hela-S3	cervix:
9	chr7:100749902..100752214-chr7:100764849..100766479,2	MCF-7	breast:

Variant related genes	Relation type
SERPINE1	TF binding region
ENSG00000260336	Chromatin interaction
ENSG00000106366	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000171914	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12530725	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12530730	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12536798	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538402	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34144144	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34772825	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35532237	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35664038	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35799997	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4727479	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4729659	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4729661	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4729663	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4729664	0.94[EUR][1000 genomes]
rs62483748	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6950982	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6951404	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6955537	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6956010	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs757722	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7783913	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7784462	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7784489	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7784514	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7790022	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100757600-100770400	Enhancers	Placenta	Placenta
2	chr7:100761800-100770400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:100762000-100765600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:100762200-100770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:100763000-100765600	Enhancers	HSMMtube	muscle
6	chr7:100763200-100770200	Enhancers	Lung	lung
7	chr7:100763800-100768800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:100764600-100765600	Enhancers	Pancreas	Pancrea
9	chr7:100764600-100766000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:100764600-100766800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:100764800-100765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:100764800-100765600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:100764800-100766600	Weak transcription	Aorta	Aorta
14	chr7:100765000-100766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:100765000-100766000	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:100765000-100766200	Flanking Active TSS	Hela-S3	cervix
17	chr7:100765200-100765600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:100765200-100765600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
19	chr7:100765200-100765600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr7:100765200-100765600	Active TSS	Brain Hippocampus Middle	brain
21	chr7:100765200-100765600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr7:100765200-100765600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr7:100765200-100765600	Flanking Active TSS	GM12878-XiMat	blood
24	chr7:100765200-100765800	Active TSS	Colon Smooth Muscle	Colon
25	chr7:100765200-100765800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:100765200-100765800	Active TSS	Right Atrium	heart
27	chr7:100765200-100766000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:100765200-100766000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr7:100765200-100766000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr7:100765200-100766000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:100765200-100766000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:100765200-100766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:100765200-100766000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:100765200-100766000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr7:100765200-100766000	Active TSS	Duodenum Mucosa	Duodenum
36	chr7:100765200-100766000	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr7:100765200-100766000	Active TSS	Ovary	ovary
38	chr7:100765200-100766000	Flanking Active TSS	Stomach Mucosa	stomach
39	chr7:100765200-100766200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:100765200-100766200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:100765200-100766200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:100765200-100766200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr7:100765200-100766200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:100765200-100766200	Bivalent Enhancer	Fetal Thymus	thymus
45	chr7:100765200-100766200	Flanking Active TSS	A549	lung
46	chr7:100765200-100766200	Enhancers	HMEC	breast
47	chr7:100765200-100766200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr7:100765200-100766400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:100765200-100766400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:100765200-100766400	Flanking Active TSS	Liver	Liver

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