Variant report

Variant	rs2869434
Chromosome Location	chr4:87282698-87282699
allele	A/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	chr4:87282697-87282747	HCT-116	colon:	n/a
2	chr4:87282697-87282747	SK-N-MC	brain:	n/a
3	chr4:87282697-87282747	LNCaP	prostate:	n/a
4	chr4:87282697-87282747	HCM	heart:	n/a
5	chr4:87282697-87282747	AG09309	skin:	n/a
6	chr4:87282697-87282747	AG10803	skin:	n/a
7	chr4:87282697-87282747	HMEC	breast:	n/a
8	chr4:87282697-87282747	MCF-7	breast:	n/a
9	chr4:87282697-87282747	PANC-1	pancreas:	n/a
10	chr4:87282697-87282747	AG09319	gingival:	n/a
11	chr4:87282697-87282747	HIPEpiC	eye:	n/a
12	chr4:87282697-87282747	AG04449	skin:	fetal
13	chr4:87282697-87282747	BJ	skin:	n/a
14	chr4:87282697-87282747	SKMC	muscle:	n/a
15	chr4:87282697-87282747	Hepatocyte	liver:	n/a
16	chr4:87282697-87282747	SAEC	small airway:	n/a
17	chr4:87282697-87282747	Caco-2	colon:	n/a
18	chr4:87282697-87282747	HRE	kidney:	n/a
19	chr4:87282697-87282747	HCF	heart:	n/a
20	chr4:87282697-87282747	HAEpiC	amniotic membrane:	n/a
21	chr4:87282697-87282747	NB4	blood:	n/a
22	chr4:87282697-87282747	NHBE	bronchial:	n/a
23	chr4:87282697-87282747	NH-A	brain:	n/a
24	chr4:87282697-87282747	T-47D	breast:	n/a
25	chr4:87282697-87282747	ECC-1	luminal epithelium:	n/a
26	chr4:87282697-87282747	HNPCEpiC	eye:	n/a
27	chr4:87282697-87282747	IMR90	lung:	fetal
28	chr4:87282697-87282747	SK-N-SH	brain:	n/a
29	chr4:87282697-87282747	K562	blood:	n/a
30	chr4:87282697-87282747	RPTEC	kidney:	n/a
31	chr4:87282697-87282747	HCPEpiC	choroid plexus:	n/a
32	chr4:87282697-87282747	HepG2	liver:	n/a
33	chr4:87282697-87282747	AoSMC	blood vessel:	n/a
34	chr4:87282697-87282747	ProgFib	skin:	n/a
35	chr4:87282697-87282747	BE2_C	brain:	n/a
36	chr4:87282697-87282747	AG04450	lung:	fetal
37	chr4:87282697-87282747	HRPEpiC	eye:	n/a
38	chr4:87282697-87282747	U87	brain:	n/a
39	chr4:87282697-87282747	HUVEC	blood vessel:	n/a
40	chr4:87282697-87282747	GM06990	blood:	n/a
41	chr4:87282697-87282747	A549	lung:	n/a
42	chr4:87282697-87282747	HEK293	kidney:	embryo
43	chr4:87282697-87282747	HEEpiC	esophagus:	n/a
44	chr4:87282697-87282747	PFSK-1	brain:	n/a
45	chr4:87282697-87282747	GM12892	blood:	n/a
46	chr4:87282697-87282747	H1-hESC	embryonic stem cell:	embryo
47	chr4:87282697-87282747	GM12891	blood:	n/a
48	chr4:87282697-87282747	SK-N-SH_RA	brain:	n/a
49	chr4:87282697-87282747	Hela-S3	cervix:	n/a
50	chr4:87282697-87282747	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
MAPK10	CpG island

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17409478	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17409637	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17417758	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17449147	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17449582	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17451111	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869423	0.83[AMR][1000 genomes]
rs2869433	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35103650	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4299551	0.83[AMR][1000 genomes]
rs4521313	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693140	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4693763	0.83[AMR][1000 genomes]
rs4693769	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55724430	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56255533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57869802	0.83[AMR][1000 genomes]
rs60753208	0.83[AMR][1000 genomes]
rs62305543	0.81[AMR][1000 genomes]
rs62307365	0.83[AMR][1000 genomes]
rs62307366	0.83[AMR][1000 genomes]
rs62307367	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62307409	0.92[ASN][1000 genomes]
rs62307454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308361	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308365	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72663972	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7376405	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7688651	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong 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	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv934210	chr4:87197339-87325578	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87275600-87302400	Weak transcription	Aorta	Aorta
2	chr4:87281600-87285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:87281600-87315800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:87281800-87282800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:87281800-87285000	Weak transcription	Fetal Stomach	stomach
6	chr4:87282000-87282800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:87282000-87283000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr4:87282200-87283000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:87282200-87283200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:87282400-87283200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:87282400-87287400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:87282600-87283000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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