Variant report

Variant	rs2633359
Chromosome Location	chr7:137807462-137807463
allele	C/T
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	POLR2A	chr7:137807219-137808236	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:137807421-137807471	Jurkat	blood:	n/a
2	chr7:137807421-137807471	U87	brain:	n/a
3	chr7:137807421-137807471	IMR90	lung:	fetal
4	chr7:137807421-137807471	PFSK-1	brain:	n/a
5	chr7:137807421-137807471	GM19239	blood:	n/a
6	chr7:137807421-137807471	H1-hESC	embryonic stem cell:	embryo
7	chr7:137807421-137807471	Caco-2	colon:	n/a
8	chr7:137807421-137807471	HEK293	kidney:	embryo
9	chr7:137807421-137807471	HRPEpiC	eye:	n/a
10	chr7:137807421-137807471	K562	blood:	n/a
11	chr7:137807421-137807471	NB4	blood:	n/a
12	chr7:137807421-137807471	AG04450	lung:	fetal
13	chr7:137807421-137807471	PrEC	prostate:	n/a
14	chr7:137807421-137807471	HCF	heart:	n/a
15	chr7:137807421-137807471	NHDF-neo	bronchial:	n/a
16	chr7:137807421-137807471	NT2-D1	testis:	n/a
17	chr7:137807421-137807471	GM12891	blood:	n/a
18	chr7:137807421-137807471	MCF10A-Er-Src	breast:	n/a
19	chr7:137807421-137807471	ProgFib	skin:	n/a
20	chr7:137807421-137807471	HCT-116	colon:	n/a
21	chr7:137807421-137807471	AG10803	skin:	n/a
22	chr7:137807421-137807471	RPTEC	kidney:	n/a
23	chr7:137807421-137807471	HCPEpiC	choroid plexus:	n/a
24	chr7:137807421-137807471	HNPCEpiC	eye:	n/a
25	chr7:137807421-137807471	LNCaP	prostate:	n/a
26	chr7:137807421-137807471	SK-N-MC	brain:	n/a
27	chr7:137807421-137807471	ECC-1	luminal epithelium:	n/a
28	chr7:137807421-137807471	HCM	heart:	n/a
29	chr7:137807421-137807471	SK-N-SH_RA	brain:	n/a
30	chr7:137807421-137807471	PANC-1	pancreas:	n/a
31	chr7:137807421-137807471	SAEC	small airway:	n/a
32	chr7:137807421-137807471	GM12878	blood:	n/a
33	chr7:137807421-137807471	ovcar-3	ovarian:	n/a
34	chr7:137807421-137807471	AG09319	gingival:	n/a
35	chr7:137807421-137807471	HUVEC	blood vessel:	n/a
36	chr7:137807421-137807471	HAEpiC	amniotic membrane:	n/a
37	chr7:137807421-137807471	SKMC	muscle:	n/a
38	chr7:137807421-137807471	AG04449	skin:	fetal
39	chr7:137807421-137807471	BE2_C	brain:	n/a
40	chr7:137807421-137807471	CMK	blood:	n/a
41	chr7:137807421-137807471	Hepatocyte	liver:	n/a
42	chr7:137807421-137807471	HIPEpiC	eye:	n/a
43	chr7:137807421-137807471	MCF-7	breast:	n/a
44	chr7:137807421-137807471	SK-N-SH	brain:	n/a
45	chr7:137807421-137807471	HL-60	blood:	n/a
46	chr7:137807421-137807471	GM06990	blood:	n/a
47	chr7:137807421-137807471	NHBE	bronchial:	n/a
48	chr7:137807421-137807471	HepG2	liver:	n/a
49	chr7:137807421-137807471	AG09309	skin:	n/a
50	chr7:137807421-137807471	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
MIR4468	TF binding region
MIR4468	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1844398	0.82[ASN][1000 genomes]
rs2440798	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2440800	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2450838	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2465072	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2465085	0.86[AMR][1000 genomes]
rs2465911	0.90[ASN][1000 genomes]
rs2465914	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2465915	0.80[AMR][1000 genomes]
rs2590000	1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2709984	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2709986	0.85[AMR][1000 genomes]
rs35854051	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467735	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137802000-137808800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:137802200-137809800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:137805000-137810000	Weak transcription	Liver	Liver
4	chr7:137806400-137809400	Weak transcription	HepG2	liver
5	chr7:137807000-137808000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:137807000-137810200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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