Variant report

Variant	rs4729664
Chromosome Location	chr7:100767326-100767327
allele	C/G
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	chr7:100764785-100768279	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100766998-100767367	HepG2	liver:	n/a	n/a
3	RCOR1	chr7:100764764-100767326	IMR90	lung:	n/a	n/a
4	POLR2A	chr7:100766553-100767395	IMR90	lung:	n/a	n/a
5	JUND	chr7:100764966-100767326	SK-N-SH	brain:	n/a	chr7:100766059-100766070
6	POLR2A	chr7:100765177-100767330	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100761869..100763568-chr7:100766279..100768842,3	K562	blood:
2	chr7:100755368..100757885-chr7:100766131..100768101,2	K562	blood:
3	chr7:100764835..100766607-chr7:100766723..100768897,2	MCF-7	breast:
4	chr7:100764510..100767354-chr7:100769869..100771575,2	MCF-7	breast:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12530725	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12530730	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536798	0.86[EUR][1000 genomes]
rs12538402	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34144144	0.86[EUR][1000 genomes]
rs34772825	0.83[EUR][1000 genomes]
rs35532237	0.83[EUR][1000 genomes]
rs35799997	0.86[EUR][1000 genomes]
rs4727479	0.86[EUR][1000 genomes]
rs4729661	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4729662	0.94[EUR][1000 genomes]
rs4729663	0.86[EUR][1000 genomes]
rs62483748	0.86[EUR][1000 genomes]
rs6950982	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs6951404	0.81[EUR][1000 genomes]
rs6955537	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6956010	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs7783913	0.84[EUR][1000 genomes]
rs7784462	0.83[EUR][1000 genomes]
rs7784489	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs7784514	0.83[EUR][1000 genomes]
rs7790022	0.86[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:77 , 50 per page) page: 1 2

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	chr7:100762200-100770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:100763200-100770200	Enhancers	Lung	lung
5	chr7:100763800-100768800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:100765200-100767400	Enhancers	Spleen	Spleen
7	chr7:100765200-100767400	Flanking Active TSS	HepG2	liver
8	chr7:100765200-100767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100765600-100769400	Weak transcription	Pancreas	Pancrea
10	chr7:100765800-100768800	Weak transcription	Esophagus	oesophagus
11	chr7:100766000-100767600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:100766000-100767800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:100766000-100767800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:100766000-100767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:100766000-100768800	Enhancers	Fetal Stomach	stomach
16	chr7:100766000-100769400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:100766000-100769800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:100766000-100769800	Enhancers	Ovary	ovary
19	chr7:100766000-100770000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:100766000-100770000	Enhancers	NHLF	lung
21	chr7:100766000-100770200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:100766000-100770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:100766200-100767600	Weak transcription	NHEK	skin
24	chr7:100766200-100767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:100766200-100767800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:100766200-100767800	Enhancers	A549	lung
27	chr7:100766200-100767800	Weak transcription	HMEC	breast
28	chr7:100766200-100768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:100766200-100768000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:100766200-100768000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:100766200-100768200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:100766200-100768800	Enhancers	Hela-S3	cervix
33	chr7:100766200-100769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:100766200-100769400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:100766200-100769400	Enhancers	HUVEC	blood vessel
36	chr7:100766200-100769400	Enhancers	NHDF-Ad	bronchial
37	chr7:100766200-100769600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:100766200-100769600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:100766200-100769600	Enhancers	HSMM	muscle
40	chr7:100766200-100769800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:100766200-100769800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:100766200-100769800	Enhancers	NH-A	brain
43	chr7:100766200-100770000	Enhancers	Fetal Muscle Leg	muscle
44	chr7:100766400-100767600	Weak transcription	K562	blood
45	chr7:100766400-100767800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:100766400-100767800	Weak transcription	Fetal Lung	lung
47	chr7:100766400-100769400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:100766400-100769400	Enhancers	Liver	Liver
49	chr7:100766400-100769400	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:100766400-100769600	Weak transcription	H1 Cell Line	embryonic stem cell

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