Variant report

Variant	rs59481765
Chromosome Location	chr14:104008222-104008223
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103964404..103966727-chr14:104006569..104008780,2	K562	blood:
2	chr14:104007446..104009155-chr14:104027649..104030499,2	K562	blood:
3	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:

Variant related genes	Relation type
ENSG00000256053	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000166170	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs35683215	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36089168	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55647409	0.86[AFR][1000 genomes]
rs55656415	0.86[AFR][1000 genomes]
rs56107951	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56195804	1.00[AMR][1000 genomes]
rs56355095	1.00[AMR][1000 genomes]
rs58156499	0.86[AFR][1000 genomes]
rs59233542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60627181	1.00[AMR][1000 genomes]
rs61296144	1.00[AMR][1000 genomes]
rs74084508	1.00[AMR][1000 genomes]
rs74085958	1.00[AMR][1000 genomes]
rs74086001	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006992	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	esv1835145	chr14:103984294-104014935	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv566021	chr14:103989639-104012982	Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	esv1819920	chr14:103989971-104018096	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
19	nsv9170	chr14:103994260-104017971	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	esv1825092	chr14:104005264-104022171	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:103997600-104013000	Weak transcription	K562	blood
3	chr14:104002000-104012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:104002400-104009800	Weak transcription	Liver	Liver
6	chr14:104002400-104013000	Weak transcription	Dnd41	blood
7	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:104003000-104008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:104003200-104010600	Enhancers	NHDF-Ad	bronchial
11	chr14:104003400-104010000	Weak transcription	Spleen	Spleen
12	chr14:104003800-104009000	Enhancers	Fetal Muscle Leg	muscle
13	chr14:104004000-104008800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:104004200-104011400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:104004400-104008400	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:104004400-104011400	Enhancers	Right Ventricle	heart
17	chr14:104004600-104008400	Enhancers	Colon Smooth Muscle	Colon
18	chr14:104004600-104011400	Enhancers	Adipose Nuclei	Adipose
19	chr14:104004600-104013600	Enhancers	Brain Angular Gyrus	brain
20	chr14:104004800-104008800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:104004800-104010000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:104005000-104008800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:104005000-104008800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:104005400-104009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:104005400-104011400	Enhancers	Ovary	ovary
26	chr14:104005800-104008400	Enhancers	Brain Anterior Caudate	brain
27	chr14:104005800-104009000	Weak transcription	Psoas Muscle	Psoas
28	chr14:104005800-104011400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:104006000-104010000	Enhancers	Placenta	Placenta
30	chr14:104006000-104017800	Weak transcription	Aorta	Aorta
31	chr14:104006200-104008400	Enhancers	Stomach Mucosa	stomach
32	chr14:104006200-104008800	Enhancers	Fetal Stomach	stomach
33	chr14:104006400-104008600	Enhancers	Fetal Intestine Small	intestine
34	chr14:104006400-104009600	Flanking Active TSS	HSMM	muscle
35	chr14:104006400-104010000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:104006400-104010600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:104006800-104008800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:104006800-104008800	Bivalent Enhancer	HepG2	liver
39	chr14:104006800-104009800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:104006800-104011200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:104006800-104011200	Enhancers	Esophagus	oesophagus
42	chr14:104006800-104011400	Enhancers	Fetal Intestine Large	intestine
43	chr14:104006800-104011800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr14:104007000-104008400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr14:104007000-104008800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:104007000-104009800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:104007000-104010000	Enhancers	NHLF	lung
48	chr14:104007000-104011200	Enhancers	Duodenum Mucosa	Duodenum
49	chr14:104007000-104011400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:104007000-104011400	Enhancers	Lung	lung

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