Variant report

Variant	rs59330484
Chromosome Location	chr14:103896959-103896960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10132290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133386	1.00[AMR][1000 genomes]
rs10135716	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138651	1.00[AMR][1000 genomes]
rs10138842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141919	1.00[AMR][1000 genomes]
rs10145990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147675	1.00[AMR][1000 genomes]
rs10148672	1.00[AMR][1000 genomes]
rs10151314	1.00[AMR][1000 genomes]
rs11848774	0.96[AFR][1000 genomes]
rs11851727	1.00[AMR][1000 genomes]
rs13379294	1.00[AMR][1000 genomes]
rs13379421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631776	1.00[AMR][1000 genomes]
rs35273920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35586956	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56134485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56305318	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59988848	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60236703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61651942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73353049	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359944	1.00[AMR][1000 genomes]
rs73359947	1.00[AMR][1000 genomes]
rs8022746	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
4	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
6	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
7	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
8	chr14:103884200-103897200	Weak transcription	Fetal Intestine Small	intestine
9	chr14:103888200-103900400	Weak transcription	HepG2	liver
10	chr14:103889400-103917800	Weak transcription	Gastric	stomach
11	chr14:103890000-103900200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:103890000-103900400	Weak transcription	Aorta	Aorta
13	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:103890200-103900200	Weak transcription	NHLF	lung
15	chr14:103890200-103900400	Weak transcription	Thymus	Thymus
16	chr14:103890200-103900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:103890200-103900600	Weak transcription	HSMMtube	muscle
18	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:103890200-103914200	Weak transcription	Lung	lung
20	chr14:103890800-103897800	Weak transcription	Fetal Stomach	stomach
21	chr14:103891000-103904000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:103891200-103900000	Weak transcription	Primary B cells from cord blood	blood
23	chr14:103891200-103900400	Weak transcription	Fetal Intestine Large	intestine
24	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:103893200-103905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:103894200-103899000	Weak transcription	Brain Germinal Matrix	brain
27	chr14:103894200-103900400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:103894400-103897200	Weak transcription	Left Ventricle	heart
29	chr14:103894400-103897400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:103894400-103900000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:103894400-103900400	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:103894400-103900600	Weak transcription	Right Atrium	heart
33	chr14:103894400-103911400	Weak transcription	Pancreas	Pancrea
34	chr14:103894400-103911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:103894600-103898400	Weak transcription	NHEK	skin
36	chr14:103894600-103898600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:103894600-103899000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:103894600-103900200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:103894600-103900200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:103894600-103900400	Weak transcription	Psoas Muscle	Psoas
41	chr14:103894600-103901400	Weak transcription	A549	lung
42	chr14:103894600-103904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:103894600-103908200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:103894600-103911400	Weak transcription	Brain Angular Gyrus	brain
45	chr14:103894600-103911600	Weak transcription	Fetal Brain Female	brain
46	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
48	chr14:103895000-103900200	Weak transcription	Liver	Liver
49	chr14:103895200-103897200	Strong transcription	Dnd41	blood
50	chr14:103895400-103897000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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