Variant report

Variant	rs74040739
Chromosome Location	chr14:25412268-25412269
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11159000	0.81[AFR][1000 genomes]
rs11159001	0.84[AFR][1000 genomes]
rs2038699	0.83[ASN][1000 genomes]
rs4561376	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55687412	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59153576	0.82[ASN][1000 genomes]
rs7141066	0.85[ASN][1000 genomes]
rs74040740	0.81[AFR][1000 genomes]
rs912306	0.85[ASN][1000 genomes]
rs9671261	0.84[AFR][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25396600-25415800	Weak transcription	Fetal Brain Male	brain
2	chr14:25399400-25413800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:25399800-25413400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:25399800-25413600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:25405600-25412400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:25407400-25413200	Weak transcription	Brain Anterior Caudate	brain
7	chr14:25408400-25412400	Enhancers	Fetal Heart	heart
8	chr14:25409000-25412400	Enhancers	GM12878-XiMat	blood
9	chr14:25409800-25412600	Enhancers	Pancreas	Pancrea
10	chr14:25409800-25412800	Enhancers	Left Ventricle	heart
11	chr14:25410000-25412600	Enhancers	Right Atrium	heart
12	chr14:25410000-25414200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:25410400-25412400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:25410400-25412600	Enhancers	Fetal Intestine Large	intestine
15	chr14:25410400-25412800	Enhancers	Fetal Thymus	thymus
16	chr14:25410400-25413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:25410400-25413600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:25410600-25412600	Enhancers	Fetal Intestine Small	intestine
19	chr14:25410600-25412600	Enhancers	Fetal Lung	lung
20	chr14:25410600-25413000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:25410600-25414200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:25410800-25412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:25410800-25414200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:25411000-25412600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:25411200-25412400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:25411200-25412400	Weak transcription	Gastric	stomach
27	chr14:25411200-25412600	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:25411600-25412400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:25411600-25412600	Enhancers	Brain Substantia Nigra	brain
30	chr14:25411600-25412600	Enhancers	Right Ventricle	heart
31	chr14:25411800-25412400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:25411800-25412400	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:25411800-25412400	Weak transcription	Lung	lung
34	chr14:25411800-25412600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:25411800-25412600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:25411800-25412600	Enhancers	Brain Angular Gyrus	brain
37	chr14:25411800-25412600	Enhancers	Brain Cingulate Gyrus	brain
38	chr14:25411800-25412600	Enhancers	Colon Smooth Muscle	Colon
39	chr14:25411800-25412600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:25411800-25412600	Enhancers	NHDF-Ad	bronchial
41	chr14:25412000-25412600	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:25412000-25412600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:25412000-25413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:25412000-25413600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:25412000-25413800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:25412000-25417600	Weak transcription	HepG2	liver
47	chr14:25412200-25412400	Enhancers	HSMM	muscle
48	chr14:25412200-25412600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:25412200-25412600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr14:25412200-25412600	Enhancers	Small Intestine	intestine

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