Variant report

Variant	rs13403621
Chromosome Location	chr2:10305741-10305742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10305391..10309576-chr2:10311864..10315375,4	K562	blood:
2	chr2:10299318..10302918-chr2:10305124..10307341,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10205991	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1035120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11891059	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13390502	0.86[YRI][hapmap]
rs17379350	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4550641	0.92[ASN][1000 genomes]
rs4630742	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4669544	0.92[ASN][1000 genomes]
rs55642251	0.92[ASN][1000 genomes]
rs55728000	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6711940	0.92[ASN][1000 genomes]
rs6718918	0.92[ASN][1000 genomes]
rs72786692	0.99[ASN][1000 genomes]
rs72786699	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786701	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788303	0.96[ASN][1000 genomes]
rs72788304	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72788306	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788307	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72788313	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788315	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788320	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788324	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788326	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788352	0.91[ASN][1000 genomes]
rs72788354	0.91[ASN][1000 genomes]
rs7566844	0.91[ASN][1000 genomes]
rs7584303	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593918	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

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	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873636	chr2:10300390-10331919	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13403621	CMPK2	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:10277600-10321600	Weak transcription	K562	blood
4	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
9	chr2:10286800-10312400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10287000-10312000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:10288400-10307600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:10290200-10351400	Strong transcription	Dnd41	blood
13	chr2:10293000-10307600	Weak transcription	Gastric	stomach
14	chr2:10295400-10306400	Strong transcription	Thymus	Thymus
15	chr2:10296200-10310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:10296200-10314400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:10296400-10310400	Weak transcription	Hela-S3	cervix
18	chr2:10296400-10312400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:10296400-10312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:10296800-10309800	Weak transcription	A549	lung
21	chr2:10299600-10305800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:10299800-10310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:10300000-10307400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:10300200-10307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:10300600-10307800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:10301200-10306000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:10301200-10310000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:10302400-10309600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:10302800-10309600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:10303000-10309800	Weak transcription	HSMM	muscle
32	chr2:10303200-10309600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:10303800-10307200	Weak transcription	Fetal Intestine Large	intestine
34	chr2:10303800-10307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:10304000-10306000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:10304000-10306800	Enhancers	Fetal Lung	lung
37	chr2:10304200-10307000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:10304200-10307600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:10304200-10307800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:10304200-10309400	Weak transcription	NH-A	brain
41	chr2:10304200-10309600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:10304200-10309600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:10304400-10307200	Strong transcription	HepG2	liver
44	chr2:10304400-10307600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:10304400-10309600	Weak transcription	Fetal Brain Male	brain
46	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:10304600-10306600	Strong transcription	Fetal Stomach	stomach
48	chr2:10304600-10307800	Weak transcription	Osteobl	bone
49	chr2:10304800-10306800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr2:10305000-10306600	Strong transcription	Fetal Thymus	thymus

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