Variant report

Variant	rs173352
Chromosome Location	chr14:56756743-56756744
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	chr14:56681835..56684539-chr14:56756557..56758766,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10150333	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs10483657	0.82[TSI][hapmap]
rs11158082	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1117310	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs1382973	0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs2054491	0.83[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2054492	0.83[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap]
rs2086326	0.83[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap]
rs242578	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242583	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs242590	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs242591	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783675	0.83[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs3844020	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3912201	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4143949	0.83[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7140444	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7145330	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7151741	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs899604	0.83[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active 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
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs173352	MAPK1IP1L	cis	cerebellum	SCAN
rs173352	PTGER2	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:56735800-56765800	Weak transcription	NHLF	lung
3	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:56740000-56757000	Weak transcription	Left Ventricle	heart
6	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
7	chr14:56741400-56758200	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:56742000-56757000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:56747000-56765400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:56747000-56768600	Strong transcription	Dnd41	blood
12	chr14:56748400-56762800	Weak transcription	Stomach Mucosa	stomach
13	chr14:56748600-56756800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:56749000-56762400	Weak transcription	Gastric	stomach
15	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:56751800-56760400	Weak transcription	Psoas Muscle	Psoas
17	chr14:56752000-56758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:56753200-56765400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
20	chr14:56753400-56757000	Weak transcription	Brain Germinal Matrix	brain
21	chr14:56753800-56759200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:56753800-56765600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:56753800-56765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:56754000-56757000	Weak transcription	Spleen	Spleen
25	chr14:56754000-56757800	Weak transcription	Brain Anterior Caudate	brain
26	chr14:56754400-56758800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:56754400-56759600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:56754400-56764400	Strong transcription	Primary B cells from cord blood	blood
29	chr14:56754400-56764800	Weak transcription	Colonic Mucosa	Colon
30	chr14:56754400-56765200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:56754400-56765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:56754600-56761200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:56754600-56763400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:56754600-56765000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:56754600-56765400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:56754600-56771200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:56754800-56759000	Strong transcription	Fetal Thymus	thymus
38	chr14:56755000-56756800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:56755000-56758200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:56755000-56758800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:56755000-56758800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:56755000-56759200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:56755000-56759200	Strong transcription	Primary T cells from cord blood	blood
44	chr14:56755000-56764400	Strong transcription	Thymus	Thymus
45	chr14:56755000-56767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:56755200-56757600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:56755200-56757600	Strong transcription	Fetal Intestine Small	intestine
48	chr14:56755200-56758600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:56755200-56758800	Strong transcription	Fetal Intestine Large	intestine
50	chr14:56755200-56759000	Strong transcription	Adipose Nuclei	Adipose

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