Variant report

Variant	rs2093010
Chromosome Location	chr14:69353727-69353728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10130940	0.85[JPT][hapmap]
rs10136833	0.85[JPT][hapmap]
rs10139706	0.85[JPT][hapmap]
rs10142141	0.85[JPT][hapmap]
rs10147437	0.85[JPT][hapmap]
rs10147838	0.85[JPT][hapmap]
rs10149281	0.85[JPT][hapmap]
rs10151706	0.85[JPT][hapmap]
rs12101054	1.00[JPT][hapmap]
rs12434957	0.85[JPT][hapmap]
rs1475034	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17106429	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs181475	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs194718	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2093009	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2273419	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs370535	0.90[ASN][1000 genomes]
rs41285482	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7145390	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743127	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902074	chr14:69339691-69360631	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv977484	chr14:69352925-69355267	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2093010	PACSIN2	trans	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69336400-69358800	Strong transcription	HSMMtube	muscle
2	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
4	chr14:69336600-69358600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:69336800-69360400	Weak transcription	Right Atrium	heart
6	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
7	chr14:69337600-69361200	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:69338000-69355800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:69338000-69365400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:69338000-69366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:69338200-69354000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:69338200-69361400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:69338200-69361600	Strong transcription	Ovary	ovary
17	chr14:69338200-69361800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:69338200-69362200	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:69338200-69362800	Strong transcription	Placenta	Placenta
20	chr14:69338200-69365000	Strong transcription	Pancreas	Pancrea
21	chr14:69338200-69365600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr14:69338200-69375000	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr14:69338200-69378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:69338400-69360600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:69338400-69377800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:69338600-69370600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:69339600-69360800	Strong transcription	Fetal Stomach	stomach
29	chr14:69340800-69366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:69341800-69360200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:69341800-69364800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:69341800-69366400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:69341800-69378400	Strong transcription	Fetal Intestine Small	intestine
34	chr14:69341800-69380400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:69342000-69378200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:69342200-69378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:69343400-69362600	Strong transcription	Thymus	Thymus
38	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
39	chr14:69346800-69358400	Weak transcription	Fetal Thymus	thymus
40	chr14:69346800-69379800	Strong transcription	Fetal Intestine Large	intestine
41	chr14:69348200-69389200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:69348400-69356600	Weak transcription	Brain Substantia Nigra	brain
43	chr14:69348600-69364800	Weak transcription	Stomach Mucosa	stomach
44	chr14:69348600-69375200	Weak transcription	K562	blood
45	chr14:69349800-69359200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:69350000-69356400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr14:69350200-69355000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:69350200-69355800	Weak transcription	Brain Angular Gyrus	brain
49	chr14:69350200-69359200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:69350800-69353800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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