Variant report

Variant	rs10146650
Chromosome Location	chr14:45561490-45561491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr14:45561335-45561584	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PRPF39	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10129201	1.00[AMR][1000 genomes]
rs10131585	0.81[AFR][1000 genomes]
rs10131595	1.00[AMR][1000 genomes]
rs10131972	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs10132401	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs10132454	0.81[YRI][hapmap]
rs10132637	0.87[ASW][hapmap]
rs10134083	0.87[ASW][hapmap];0.81[YRI][hapmap]
rs10134385	1.00[AMR][1000 genomes]
rs10135494	1.00[AMR][1000 genomes]
rs10135653	0.87[ASW][hapmap]
rs10139464	0.84[YRI][hapmap]
rs10140308	0.87[ASW][hapmap];0.80[LWK][hapmap];0.81[YRI][hapmap]
rs10140661	0.81[AFR][1000 genomes]
rs10143572	1.00[ASW][hapmap]
rs10144179	0.81[YRI][hapmap]
rs10145279	0.84[ASW][hapmap];0.80[LWK][hapmap];0.81[YRI][hapmap]
rs10145979	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs10146732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146930	0.81[YRI][hapmap]
rs10147547	1.00[AMR][1000 genomes]
rs10147794	0.81[YRI][hapmap]
rs10148765	0.87[ASW][hapmap];0.81[YRI][hapmap]
rs10149748	1.00[AMR][1000 genomes]
rs10150272	0.81[AFR][1000 genomes]
rs11157429	0.81[YRI][hapmap]
rs12100992	0.81[YRI][hapmap]
rs12101074	0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092470	0.81[AFR][1000 genomes]
rs17092482	0.81[AFR][1000 genomes]
rs17115714	1.00[AMR][1000 genomes]
rs17115737	0.83[YRI][hapmap]
rs17115745	0.87[ASW][hapmap];0.83[LWK][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs17115814	0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17115898	1.00[MEX][hapmap]
rs28406098	1.00[ASW][hapmap];0.88[LWK][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs28469277	0.87[ASW][hapmap];0.83[LWK][hapmap];0.81[YRI][hapmap]
rs28513185	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536084	0.81[AFR][1000 genomes]
rs28682279	0.81[AFR][1000 genomes]
rs28688045	0.81[AFR][1000 genomes]
rs28802144	0.84[ASW][hapmap]
rs7143763	0.87[ASW][hapmap];0.81[YRI][hapmap]
rs73340651	0.81[AFR][1000 genomes]
rs748963	0.80[LWK][hapmap];1.00[MEX][hapmap]
rs8003388	0.81[YRI][hapmap]
rs961194	0.87[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554000-45564200	Weak transcription	Lung	lung
2	chr14:45554000-45564400	Weak transcription	Spleen	Spleen
3	chr14:45554000-45568600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:45554000-45585400	Weak transcription	Gastric	stomach
5	chr14:45554400-45568600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:45554400-45578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:45554400-45585400	Weak transcription	Esophagus	oesophagus
8	chr14:45554600-45564000	Weak transcription	Placenta	Placenta
9	chr14:45554600-45565400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:45554600-45576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:45554800-45564600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:45554800-45565400	Weak transcription	Fetal Stomach	stomach
14	chr14:45555000-45564400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:45555000-45564400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:45555000-45564400	Weak transcription	Fetal Kidney	kidney
17	chr14:45555000-45564400	Weak transcription	Fetal Thymus	thymus
18	chr14:45555000-45565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:45555000-45569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:45555000-45577000	Weak transcription	Aorta	Aorta
21	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:45555200-45564200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:45555200-45564200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:45555200-45564200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:45555200-45564400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:45555200-45565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:45555200-45579000	Weak transcription	Stomach Mucosa	stomach
28	chr14:45555400-45561600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:45555400-45562200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:45555400-45564400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:45555400-45565200	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:45555400-45565400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:45555400-45565600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:45555400-45569200	Weak transcription	Right Ventricle	heart
35	chr14:45555400-45574600	Weak transcription	Ovary	ovary
36	chr14:45555600-45564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:45555600-45564200	Weak transcription	HSMMtube	muscle
38	chr14:45555600-45565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:45555800-45564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:45555800-45573600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:45556000-45562000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:45556000-45563600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr14:45556000-45564000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:45556000-45564200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:45556000-45564400	Weak transcription	Liver	Liver
46	chr14:45556000-45565800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr14:45556200-45563800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:45556200-45573800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:45556400-45564400	Weak transcription	Fetal Brain Female	brain
50	chr14:45556400-45582000	Weak transcription	Fetal Brain Male	brain

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