Variant report

Variant	rs8013708
Chromosome Location	chr14:72158974-72158975
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	chr14:72152429..72155391-chr14:72157958..72160807,2	K562	blood:
2	chr14:72158425..72160301-chr14:72160742..72162435,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10136590	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10146552	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628525	0.92[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs1859551	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35958404	0.81[ASN][1000 genomes]
rs3784063	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4464023	0.91[CHD][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs7141155	0.96[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs7145435	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7150965	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7401916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8013708	PCNX	cis	cerebellum	SCAN
rs8013708	SIPA1L1	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:72126200-72159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
6	chr14:72134200-72159000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
9	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:72142600-72159000	Weak transcription	Brain Germinal Matrix	brain
11	chr14:72142600-72159000	Weak transcription	NH-A	brain
12	chr14:72142600-72159200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:72142600-72159600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:72142600-72159800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:72148000-72161600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:72148600-72165000	Weak transcription	Fetal Brain Male	brain
21	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:72149400-72161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
25	chr14:72150400-72162600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:72151400-72169600	Weak transcription	Fetal Brain Female	brain
27	chr14:72151600-72171800	Weak transcription	Left Ventricle	heart
28	chr14:72151600-72188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:72151800-72171600	Weak transcription	Colonic Mucosa	Colon
30	chr14:72152200-72165600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:72152400-72159200	Weak transcription	Lung	lung
32	chr14:72152400-72159400	Weak transcription	Aorta	Aorta
33	chr14:72152400-72159600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:72152400-72168800	Weak transcription	Esophagus	oesophagus
35	chr14:72152400-72171600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:72152600-72159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:72152600-72159200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:72152600-72161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:72152800-72165600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:72153000-72159200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:72153000-72160200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:72153000-72162200	Weak transcription	HMEC	breast
43	chr14:72153000-72165800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:72153000-72175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:72153200-72159200	Weak transcription	Adipose Nuclei	Adipose
46	chr14:72153200-72175800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:72153600-72159200	Weak transcription	Right Atrium	heart
48	chr14:72153600-72168800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:72153800-72160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:72153800-72165800	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links