Variant report

Variant	rs10151683
Chromosome Location	chr14:39627271-39627272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39591499..39594370-chr14:39626411..39628050,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10130972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10133797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136536	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149120	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1061583	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11157041	0.84[CHB][hapmap]
rs12147991	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12885242	0.84[CHB][hapmap]
rs12891258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12894046	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12895751	0.81[EUR][1000 genomes]
rs13379360	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17108846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2737721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2753606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379470	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28485301	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28856917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34816815	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35035794	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742354	0.91[CHB][hapmap]
rs3759545	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4143954	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902405	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902406	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532	0.83[EUR][1000 genomes]
rs57653321	0.84[AFR][1000 genomes]
rs58851254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67248626	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71407780	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7147194	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153124	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73291544	0.84[AFR][1000 genomes]
rs8006879	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009933	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs9322992	0.85[CHB][hapmap]
rs9322994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv977459	chr14:39623512-39627427	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10151683	SIP1	Cis_1M	lymphoblastoid	RTeQTL
rs10151683	TRAPPC6B	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
2	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
4	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:39608200-39630600	Weak transcription	NHEK	skin
7	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39611400-39638000	Weak transcription	A549	lung
10	chr14:39612000-39631600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:39614200-39628200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:39615200-39627600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:39616200-39627600	Strong transcription	HepG2	liver
17	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:39616800-39629600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:39616800-39629600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr14:39617000-39628000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:39617200-39627600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:39617200-39628000	Strong transcription	Adipose Nuclei	Adipose
31	chr14:39617200-39628000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:39617600-39632400	Strong transcription	Fetal Thymus	thymus
34	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
35	chr14:39617800-39637400	Weak transcription	K562	blood
36	chr14:39619600-39628200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
40	chr14:39620000-39630000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:39620000-39630800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:39620200-39629400	Weak transcription	HMEC	breast
43	chr14:39620800-39628000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:39621000-39627600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:39621000-39632000	Strong transcription	Primary B cells from cord blood	blood
46	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:39621200-39628200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:39621400-39627400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:39622000-39633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:39622200-39630600	Weak transcription	Brain Substantia Nigra	brain

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