Variant report

Variant	rs58090944
Chromosome Location	chr7:5629960-5629961
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	NR3C1	chr7:5629718-5630126	A549	lung:	n/a	chr7:5629958-5629984 chr7:5629964-5629978 chr7:5629961-5629982
2	USF2	chr7:5629929-5630118	GM12878	blood:	n/a	chr7:5630021-5630042
3	NR3C1	chr7:5629847-5630078	A549	lung:	n/a	chr7:5629958-5629984 chr7:5629964-5629978 chr7:5629961-5629982
4	NR3C1	chr7:5629790-5630124	A549	lung:	n/a	chr7:5629958-5629984 chr7:5629964-5629978 chr7:5629961-5629982
5	NR3C1	chr7:5629689-5630181	A549	lung:	n/a	chr7:5629958-5629984 chr7:5629964-5629978 chr7:5629961-5629982
6	USF1	chr7:5629800-5630176	ECC-1	luminal epithelium:	n/a	chr7:5630021-5630042
7	EBF1	chr7:5629483-5630151	GM12878	blood:	n/a	chr7:5629658-5629669 chr7:5629635-5629645 chr7:5629636-5629645 chr7:5629634-5629647 chr7:5629634-5629645 chr7:5629636-5629645
8	NR3C1	chr7:5629624-5630268	A549	lung:	n/a	chr7:5629958-5629984 chr7:5629964-5629978 chr7:5629961-5629982
9	USF1	chr7:5629812-5630141	A549	lung:	n/a	chr7:5630021-5630042

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5629913-5629963	AG04450	lung:	fetal
2	chr7:5629913-5629963	HL-60	blood:	n/a
3	chr7:5629913-5629963	ECC-1	luminal epithelium:	n/a
4	chr7:5629913-5629963	HEEpiC	esophagus:	n/a
5	chr7:5629913-5629963	AG04449	skin:	fetal
6	chr7:5629913-5629963	Caco-2	colon:	n/a
7	chr7:5629913-5629963	HRPEpiC	eye:	n/a
8	chr7:5629913-5629963	GM12878	blood:	n/a
9	chr7:5629913-5629963	CMK	blood:	n/a
10	chr7:5629913-5629963	H1-hESC	embryonic stem cell:	embryo
11	chr7:5629913-5629963	HRCEpiC	kidney:	n/a
12	chr7:5629913-5629963	HIPEpiC	eye:	n/a
13	chr7:5629913-5629963	Hela-S3	cervix:	n/a
14	chr7:5629913-5629963	IMR90	lung:	fetal
15	chr7:5629913-5629963	Hepatocyte	liver:	n/a
16	chr7:5629913-5629963	GM06990	blood:	n/a
17	chr7:5629913-5629963	HCF	heart:	n/a
18	chr7:5629913-5629963	MCF10A-Er-Src	breast:	n/a
19	chr7:5629913-5629963	PFSK-1	brain:	n/a
20	chr7:5629913-5629963	Jurkat	blood:	n/a
21	chr7:5629913-5629963	BJ	skin:	n/a
22	chr7:5629913-5629963	HCPEpiC	choroid plexus:	n/a
23	chr7:5629913-5629963	GM12892	blood:	n/a
24	chr7:5629913-5629963	HepG2	liver:	n/a
25	chr7:5629913-5629963	ovcar-3	ovarian:	n/a
26	chr7:5629913-5629963	SK-N-SH_RA	brain:	n/a
27	chr7:5629913-5629963	NHDF-neo	bronchial:	n/a
28	chr7:5629913-5629963	HUVEC	blood vessel:	n/a
29	chr7:5629913-5629963	NB4	blood:	n/a
30	chr7:5629913-5629963	RPTEC	kidney:	n/a
31	chr7:5629913-5629963	HAEpiC	amniotic membrane:	n/a
32	chr7:5629913-5629963	AoSMC	blood vessel:	n/a
33	chr7:5629913-5629963	LNCaP	prostate:	n/a
34	chr7:5629913-5629963	HCM	heart:	n/a
35	chr7:5629913-5629963	T-47D	breast:	n/a
36	chr7:5629913-5629963	SK-N-MC	brain:	n/a
37	chr7:5629913-5629963	MCF-7	breast:	n/a
38	chr7:5629913-5629963	U87	brain:	n/a
39	chr7:5629913-5629963	A549	lung:	n/a
40	chr7:5629913-5629963	SKMC	muscle:	n/a
41	chr7:5629913-5629963	HCT-116	colon:	n/a
42	chr7:5629913-5629963	SK-N-SH	brain:	n/a
43	chr7:5629913-5629963	HEK293	kidney:	embryo
44	chr7:5629913-5629963	HRE	kidney:	n/a
45	chr7:5629913-5629963	NH-A	brain:	n/a
46	chr7:5629913-5629963	BE2_C	brain:	n/a
47	chr7:5629913-5629963	NHBE	bronchial:	n/a
48	chr7:5629913-5629963	K562	blood:	n/a
49	chr7:5629913-5629963	SAEC	small airway:	n/a
50	chr7:5629913-5629963	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5568082..5570442-chr7:5629508..5631172,2	MCF-7	breast:

Variant related genes	Relation type
FSCN1	TF binding region
FSCN1	CpG island
ENSG00000075624	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56984603	1.00[AMR][1000 genomes]
rs57926060	1.00[AMR][1000 genomes]
rs58158005	1.00[AMR][1000 genomes]
rs58464539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60300172	1.00[AMR][1000 genomes]
rs73334470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334479	1.00[AMR][1000 genomes]
rs73336207	1.00[AMR][1000 genomes]
rs73336224	1.00[AMR][1000 genomes]
rs73336227	1.00[AMR][1000 genomes]
rs73336234	1.00[AMR][1000 genomes]
rs73336241	1.00[AMR][1000 genomes]
rs73338039	1.00[AMR][1000 genomes]
rs73673169	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' 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	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5619400-5631000	Weak transcription	K562	blood
2	chr7:5621000-5631000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:5621000-5631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:5621000-5631200	Weak transcription	Right Ventricle	heart
5	chr7:5621000-5631600	Weak transcription	Pancreas	Pancrea
6	chr7:5621200-5631400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:5621400-5631000	Weak transcription	Ovary	ovary
8	chr7:5624400-5631200	Weak transcription	Adipose Nuclei	Adipose
9	chr7:5625000-5631200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:5626200-5631600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:5626400-5630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:5626400-5631000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:5626800-5631200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:5627000-5631200	Weak transcription	Brain Anterior Caudate	brain
15	chr7:5628400-5631200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:5628400-5631200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:5628600-5630000	Weak transcription	Hela-S3	cervix
18	chr7:5628600-5630600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:5628600-5630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:5628600-5630800	Weak transcription	NHDF-Ad	bronchial
21	chr7:5628600-5631000	Enhancers	HepG2	liver
22	chr7:5629200-5631200	Enhancers	Brain Hippocampus Middle	brain
23	chr7:5629400-5630400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:5629400-5631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:5629400-5631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:5629400-5631600	Enhancers	Brain Substantia Nigra	brain
27	chr7:5629400-5632400	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:5629600-5630000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:5629600-5630000	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:5629600-5630000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr7:5629600-5630200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:5629600-5630400	Enhancers	GM12878-XiMat	blood
33	chr7:5629600-5631000	Enhancers	A549	lung
34	chr7:5629600-5631200	Enhancers	Placenta	Placenta
35	chr7:5629600-5631600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:5629600-5631600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:5629600-5632000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr7:5629800-5630000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:5629800-5630000	Enhancers	Esophagus	oesophagus
40	chr7:5629800-5630200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:5629800-5631200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:5629800-5632400	Enhancers	Spleen	Spleen

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