Variant report

Variant	rs10147794
Chromosome Location	chr14:45526488-45526489
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10129456	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10130162	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130287	1.00[AMR][1000 genomes]
rs10131349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131585	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10131595	0.86[YRI][hapmap]
rs10131972	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132401	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132454	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132492	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10132637	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132697	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134083	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135653	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138405	0.95[AFR][1000 genomes]
rs10139121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140308	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140534	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140661	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142928	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143572	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs10144179	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10144729	0.95[YRI][hapmap]
rs10145279	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145979	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146650	0.81[YRI][hapmap]
rs10146732	0.83[AFR][1000 genomes]
rs10146930	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147547	0.86[YRI][hapmap]
rs10147950	1.00[AMR][1000 genomes]
rs10148765	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149416	0.95[AFR][1000 genomes]
rs10149748	0.91[YRI][hapmap]
rs10150272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151061	1.00[AMR][1000 genomes]
rs10450913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100992	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	0.91[YRI][hapmap]
rs17092470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115714	0.86[YRI][hapmap]
rs17115721	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115735	0.95[YRI][hapmap]
rs17115737	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115745	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28403384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406098	0.90[YRI][hapmap]
rs28408667	0.89[YRI][hapmap]
rs28469277	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs28513220	1.00[AMR][1000 genomes]
rs28520409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544334	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28802144	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831119	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4497593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143763	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003388	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010366	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022599	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879340	1.00[AMR][1000 genomes]
rs961194	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45552600	Weak transcription	HMEC	breast
2	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
3	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
4	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
6	chr14:45508000-45540000	Weak transcription	K562	blood
7	chr14:45508200-45528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:45508200-45530200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:45508400-45540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
11	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:45508600-45530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:45509000-45541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:45509200-45526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:45509200-45528600	Weak transcription	Esophagus	oesophagus
16	chr14:45509200-45529800	Weak transcription	Spleen	Spleen
17	chr14:45509200-45535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:45509200-45543400	Weak transcription	Lung	lung
19	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
21	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
22	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
23	chr14:45509200-45553000	Weak transcription	Gastric	stomach
24	chr14:45511600-45530800	Weak transcription	Fetal Heart	heart
25	chr14:45515800-45528400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:45515800-45543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:45516000-45527600	Weak transcription	Hela-S3	cervix
28	chr14:45516000-45530800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:45516200-45531800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:45516200-45534600	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:45516200-45538800	Weak transcription	Ovary	ovary
32	chr14:45516200-45539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:45516200-45552600	Weak transcription	Thymus	Thymus
34	chr14:45516400-45529800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:45516400-45530800	Weak transcription	Colonic Mucosa	Colon
36	chr14:45516400-45533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:45516400-45534600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:45516400-45539400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:45516400-45552600	Weak transcription	NH-A	brain
40	chr14:45516400-45552800	Weak transcription	Fetal Brain Male	brain
41	chr14:45516800-45552600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:45519400-45526800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:45519400-45539800	Weak transcription	HUVEC	blood vessel
44	chr14:45519600-45526800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:45520800-45535000	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:45521400-45542000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:45521800-45528800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:45521800-45534600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:45522200-45541200	Weak transcription	Adipose Nuclei	Adipose
50	chr14:45522400-45534800	Weak transcription	Osteobl	bone

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