Variant report

Variant	rs57012661
Chromosome Location	chr14:66172750-66172751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11846546	0.99[ASN][1000 genomes]
rs11849252	0.83[AMR][1000 genomes]
rs11849862	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12435908	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17246259	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17826724	0.85[AMR][1000 genomes]
rs17826736	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17826790	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17826796	0.86[EUR][1000 genomes]
rs17826820	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1998035	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2073294	0.80[AMR][1000 genomes]
rs2268957	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2268958	0.90[EUR][1000 genomes]
rs2268960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2300867	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2300871	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2300872	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57201867	0.81[EUR][1000 genomes]
rs58115860	0.82[AMR][1000 genomes]
rs58227678	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59204447	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59685862	0.82[AMR][1000 genomes]
rs60919640	0.99[ASN][1000 genomes]
rs60942639	0.81[EUR][1000 genomes]
rs61038704	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61533229	0.81[EUR][1000 genomes]
rs73268512	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73268521	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73268524	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73268557	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73286169	0.82[AMR][1000 genomes]
rs73286173	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8005309	0.82[AMR][1000 genomes]
rs8019491	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS 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	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:66147600-66176000	Weak transcription	Stomach Mucosa	stomach
4	chr14:66156000-66179600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:66160800-66174800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:66161600-66174600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:66164000-66173200	Weak transcription	Aorta	Aorta
8	chr14:66166400-66173000	Weak transcription	Esophagus	oesophagus
9	chr14:66169800-66189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:66170400-66174200	Weak transcription	Psoas Muscle	Psoas
11	chr14:66170400-66191400	Weak transcription	Gastric	stomach
12	chr14:66170600-66173000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:66170600-66182200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:66170600-66190800	Weak transcription	Small Intestine	intestine
15	chr14:66170800-66174600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:66171200-66172800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:66171200-66174800	Weak transcription	Primary B cells from cord blood	blood
18	chr14:66171600-66176200	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:66171600-66191400	Weak transcription	Ovary	ovary
20	chr14:66172000-66173600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:66172200-66173000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:66172200-66174600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:66172400-66173000	Strong transcription	Dnd41	blood
24	chr14:66172400-66173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:66172400-66173200	ZNF genes & repeats	GM12878-XiMat	blood
26	chr14:66172600-66173600	ZNF genes & repeats	Primary T cells from cord blood	blood

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