Variant report

Variant	rs10143806
Chromosome Location	chr14:45560605-45560606
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	WRNIP1	chr14:45560445-45560725	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PRPF39	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10130368	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs10130377	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.89[EUR][1000 genomes]
rs10131066	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10131615	0.88[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10132389	0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs10132547	0.89[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes]
rs10132949	0.89[JPT][hapmap];0.93[YRI][hapmap]
rs10134071	0.89[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10134598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135890	0.89[JPT][hapmap];0.86[YRI][hapmap]
rs10136008	0.80[EUR][1000 genomes]
rs10138272	0.90[YRI][hapmap]
rs10138997	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs10140049	0.89[JPT][hapmap];0.93[YRI][hapmap]
rs10140222	0.89[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs10140318	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10141474	1.00[CEU][hapmap];0.88[JPT][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs10145092	0.88[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs10145267	0.89[JPT][hapmap];0.85[YRI][hapmap]
rs10146395	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10147499	0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10152101	0.89[JPT][hapmap];0.86[YRI][hapmap]
rs1053667	0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs11157423	0.82[YRI][hapmap]
rs11157424	0.89[JPT][hapmap];0.83[YRI][hapmap]
rs11844832	0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11845088	0.90[YRI][hapmap]
rs11845956	0.89[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11847336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11848799	0.89[JPT][hapmap]
rs11849208	0.82[EUR][1000 genomes]
rs11850363	0.88[YRI][hapmap]
rs12100842	0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17115718	0.85[YRI][hapmap]
rs17115787	0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17115809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2033385	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs28370281	0.91[EUR][1000 genomes]
rs28448551	0.89[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28572336	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28594810	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28622413	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28637857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28681969	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3783700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3783702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825625	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs3825627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825628	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825629	0.89[JPT][hapmap];0.87[YRI][hapmap]
rs4141578	0.89[JPT][hapmap]
rs56706956	0.82[EUR][1000 genomes]
rs56836063	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57003561	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602646	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57614513	0.82[EUR][1000 genomes]
rs57694277	0.82[EUR][1000 genomes]
rs58826926	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59353994	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60891427	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61155826	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61707578	0.82[EUR][1000 genomes]
rs7146566	0.89[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158846	0.89[JPT][hapmap];0.86[YRI][hapmap]
rs72474138	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73334913	0.82[EUR][1000 genomes]
rs73340611	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73340622	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73340626	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73340655	0.91[EUR][1000 genomes]
rs73340659	0.91[EUR][1000 genomes]
rs73348065	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348069	0.82[EUR][1000 genomes]
rs73348076	0.82[EUR][1000 genomes]
rs73348079	0.82[EUR][1000 genomes]
rs73348088	0.82[EUR][1000 genomes]
rs73348095	0.82[EUR][1000 genomes]
rs73349816	0.83[ASN][1000 genomes]
rs73349820	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73349835	1.00[ASN][1000 genomes]
rs73349842	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349853	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73349857	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349858	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73349868	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73352233	0.82[EUR][1000 genomes]
rs7493823	0.82[EUR][1000 genomes]
rs8006685	0.89[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs8009193	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs8015453	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8017844	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs8022008	0.89[JPT][hapmap];0.93[YRI][hapmap]
rs8022499	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022608	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9323106	0.88[YRI][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10143806	RP11-398E10.1	cis	Nerve Tibial	GTEx

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	chr14:45554600-45561200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:45554600-45564000	Weak transcription	Placenta	Placenta
10	chr14:45554600-45565400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:45554600-45576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:45554800-45564600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:45554800-45565400	Weak transcription	Fetal Stomach	stomach
15	chr14:45555000-45564400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:45555000-45564400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:45555000-45564400	Weak transcription	Fetal Kidney	kidney
18	chr14:45555000-45564400	Weak transcription	Fetal Thymus	thymus
19	chr14:45555000-45565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:45555000-45569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:45555000-45577000	Weak transcription	Aorta	Aorta
22	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:45555200-45564200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:45555200-45564200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:45555200-45564200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:45555200-45564400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:45555200-45565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:45555200-45579000	Weak transcription	Stomach Mucosa	stomach
29	chr14:45555400-45561600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:45555400-45562200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:45555400-45564400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:45555400-45565200	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:45555400-45565400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:45555400-45565600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:45555400-45569200	Weak transcription	Right Ventricle	heart
36	chr14:45555400-45574600	Weak transcription	Ovary	ovary
37	chr14:45555600-45564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:45555600-45564200	Weak transcription	HSMMtube	muscle
39	chr14:45555600-45565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:45555800-45564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:45555800-45573600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:45556000-45562000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:45556000-45563600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:45556000-45564000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:45556000-45564200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:45556000-45564400	Weak transcription	Liver	Liver
47	chr14:45556000-45565800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:45556200-45563800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:45556200-45573800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:45556400-45564400	Weak transcription	Fetal Brain Female	brain

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