Variant report

Variant	rs71602485
Chromosome Location	chr4:618359-618360
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:618332-618382	HMEC	breast:	n/a
2	chr4:618332-618382	Hela-S3	cervix:	n/a
3	chr4:618332-618382	HCT-116	colon:	n/a
4	chr4:618332-618382	K562	blood:	n/a
5	chr4:618332-618382	GM06990	blood:	n/a
6	chr4:618332-618382	HL-60	blood:	n/a
7	chr4:618332-618382	HEEpiC	esophagus:	n/a
8	chr4:618332-618382	HUVEC	blood vessel:	n/a
9	chr4:618332-618382	BE2_C	brain:	n/a
10	chr4:618332-618382	HAEpiC	amniotic membrane:	n/a
11	chr4:618332-618382	NHDF-neo	bronchial:	n/a
12	chr4:618332-618382	SAEC	small airway:	n/a
13	chr4:618332-618382	IMR90	lung:	fetal
14	chr4:618332-618382	SK-N-SH	brain:	n/a
15	chr4:618332-618382	LNCaP	prostate:	n/a
16	chr4:618332-618382	HEK293	kidney:	embryo
17	chr4:618332-618382	NB4	blood:	n/a
18	chr4:618332-618382	HRPEpiC	eye:	n/a
19	chr4:618332-618382	HCF	heart:	n/a
20	chr4:618332-618382	GM12892	blood:	n/a
21	chr4:618332-618382	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:618332-618382	T-47D	breast:	n/a
23	chr4:618332-618382	GM12891	blood:	n/a
24	chr4:618332-618382	PANC-1	pancreas:	n/a
25	chr4:618332-618382	NH-A	brain:	n/a
26	chr4:618332-618382	HCM	heart:	n/a
27	chr4:618332-618382	NT2-D1	testis:	n/a
28	chr4:618332-618382	SK-N-MC	brain:	n/a
29	chr4:618332-618382	U87	brain:	n/a
30	chr4:618332-618382	HRCEpiC	kidney:	n/a
31	chr4:618332-618382	GM19239	blood:	n/a
32	chr4:618332-618382	HIPEpiC	eye:	n/a
33	chr4:618332-618382	ECC-1	luminal epithelium:	n/a
34	chr4:618332-618382	HCPEpiC	choroid plexus:	n/a
35	chr4:618332-618382	ovcar-3	ovarian:	n/a
36	chr4:618332-618382	GM12878	blood:	n/a
37	chr4:618332-618382	HepG2	liver:	n/a
38	chr4:618332-618382	MCF10A-Er-Src	breast:	n/a
39	chr4:618332-618382	NHBE	bronchial:	n/a
40	chr4:618332-618382	AG10803	skin:	n/a
41	chr4:618332-618382	MCF-7	breast:	n/a
42	chr4:618332-618382	PrEC	prostate:	n/a
43	chr4:618332-618382	Hepatocyte	liver:	n/a
44	chr4:618332-618382	ProgFib	skin:	n/a
45	chr4:618332-618382	RPTEC	kidney:	n/a
46	chr4:618332-618382	CMK	blood:	n/a
47	chr4:618332-618382	Jurkat	blood:	n/a
48	chr4:618332-618382	AG09309	skin:	n/a
49	chr4:618332-618382	AG04450	lung:	fetal
50	chr4:618332-618382	HRE	kidney:	n/a

No data

Variant related genes	Relation type
PDE6B	CpG island

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13116407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13147661	1.00[AMR][1000 genomes]
rs28594284	1.00[EUR][1000 genomes]
rs35091443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
10	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv593205	chr4:601791-623629	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	esv3359214	chr4:614252-618550	Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
17	nsv967276	chr4:615881-624526	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	esv3418296	chr4:616802-619150	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv993737	chr4:618112-628837	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:616200-618400	Enhancers	Brain Angular Gyrus	brain
2	chr4:616800-624200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:617200-619800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:617600-619600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:617600-619800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:617600-620000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:617600-620200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:617600-620200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:618000-618400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:618000-619800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:618200-618400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:618200-618400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:618200-618400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:618200-618800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:618200-618800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:618200-619200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:618200-619200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:618200-619200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:618200-619200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:618200-619600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:618200-619600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links