Variant report

Variant	rs576065525
Chromosome Location	chr7:4859497-4859498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:4859485-4859715	K562	blood:	n/a	chr7:4859647-4859655 chr7:4859648-4859658

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4859448-4859498	HMEC	breast:	n/a
2	chr7:4859448-4859498	HRCEpiC	kidney:	n/a
3	chr7:4859448-4859498	NT2-D1	testis:	n/a
4	chr7:4859448-4859498	HRPEpiC	eye:	n/a
5	chr7:4859448-4859498	SK-N-SH_RA	brain:	n/a
6	chr7:4859448-4859498	HUVEC	blood vessel:	n/a
7	chr7:4859448-4859498	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:4859448-4859498	HAEpiC	amniotic membrane:	n/a
9	chr7:4859448-4859498	SAEC	small airway:	n/a
10	chr7:4859448-4859498	PrEC	prostate:	n/a
11	chr7:4859448-4859498	HCM	heart:	n/a
12	chr7:4859448-4859498	CMK	blood:	n/a
13	chr7:4859448-4859498	AG09309	skin:	n/a
14	chr7:4859448-4859498	HCT-116	colon:	n/a
15	chr7:4859448-4859498	Hela-S3	cervix:	n/a
16	chr7:4859448-4859498	HepG2	liver:	n/a
17	chr7:4859448-4859498	SK-N-SH	brain:	n/a
18	chr7:4859448-4859498	NH-A	brain:	n/a
19	chr7:4859448-4859498	Jurkat	blood:	n/a
20	chr7:4859448-4859498	Caco-2	colon:	n/a
21	chr7:4859448-4859498	GM12891	blood:	n/a
22	chr7:4859448-4859498	IMR90	lung:	fetal
23	chr7:4859448-4859498	AG09319	gingival:	n/a
24	chr7:4859448-4859498	Hepatocyte	liver:	n/a
25	chr7:4859448-4859498	BE2_C	brain:	n/a
26	chr7:4859448-4859498	NHBE	bronchial:	n/a
27	chr7:4859448-4859498	HL-60	blood:	n/a
28	chr7:4859448-4859498	LNCaP	prostate:	n/a
29	chr7:4859448-4859498	ECC-1	luminal epithelium:	n/a
30	chr7:4859448-4859498	MCF-7	breast:	n/a
31	chr7:4859448-4859498	HRE	kidney:	n/a
32	chr7:4859448-4859498	GM12878	blood:	n/a
33	chr7:4859448-4859498	PFSK-1	brain:	n/a
34	chr7:4859448-4859498	NHDF-neo	bronchial:	n/a
35	chr7:4859448-4859498	T-47D	breast:	n/a
36	chr7:4859448-4859498	H1-hESC	embryonic stem cell:	embryo
37	chr7:4859448-4859498	RPTEC	kidney:	n/a
38	chr7:4859448-4859498	BJ	skin:	n/a
39	chr7:4859448-4859498	GM12892	blood:	n/a
40	chr7:4859448-4859498	U87	brain:	n/a
41	chr7:4859448-4859498	AG10803	skin:	n/a
42	chr7:4859448-4859498	HNPCEpiC	eye:	n/a
43	chr7:4859448-4859498	ovcar-3	ovarian:	n/a
44	chr7:4859448-4859498	HEK293	kidney:	embryo
45	chr7:4859448-4859498	HCPEpiC	choroid plexus:	n/a
46	chr7:4859448-4859498	GM19239	blood:	n/a
47	chr7:4859448-4859498	MCF10A-Er-Src	breast:	n/a
48	chr7:4859448-4859498	ProgFib	skin:	n/a
49	chr7:4859448-4859498	PANC-1	pancreas:	n/a
50	chr7:4859448-4859498	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
RADIL	TF binding region
RADIL	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' 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	17 gene(s)	inside rSNPs	diseases
12	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv887385	chr7:4820581-4860835	Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
17	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
18	nsv887387	chr7:4823971-4860835	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
19	nsv887388	chr7:4823971-4880954	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
20	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	esv3354015	chr7:4859490-4859661	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4832400-4859800	Weak transcription	Right Atrium	heart
2	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:4838400-4859800	Weak transcription	Left Ventricle	heart
5	chr7:4846800-4876600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:4847200-4869600	Weak transcription	Brain Substantia Nigra	brain
7	chr7:4848000-4863200	Weak transcription	Fetal Brain Male	brain
8	chr7:4849200-4875800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:4850800-4873800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:4853800-4869000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:4854600-4859800	Weak transcription	Spleen	Spleen
12	chr7:4855000-4872600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:4855000-4872800	Weak transcription	Fetal Brain Female	brain
14	chr7:4856000-4864000	Weak transcription	Brain Anterior Caudate	brain
15	chr7:4856200-4861200	Enhancers	Fetal Muscle Leg	muscle
16	chr7:4856600-4860000	Weak transcription	Lung	lung
17	chr7:4857000-4861200	Enhancers	Fetal Stomach	stomach
18	chr7:4857800-4861200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:4858200-4859800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:4858200-4860400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:4858200-4861200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr7:4858200-4873400	Weak transcription	Brain Germinal Matrix	brain
23	chr7:4858400-4859800	Weak transcription	Right Ventricle	heart
24	chr7:4858400-4860000	Weak transcription	Fetal Lung	lung
25	chr7:4858800-4861200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr7:4859000-4859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:4859000-4859600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:4859000-4860000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:4859000-4860800	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr7:4859000-4861000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:4859000-4863400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:4859200-4859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:4859200-4860000	Bivalent Enhancer	Placenta	Placenta
34	chr7:4859200-4860400	Enhancers	Fetal Heart	heart
35	chr7:4859200-4862600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:4859200-4879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:4859400-4859600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:4859400-4861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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