Variant report

Variant	rs55693281
Chromosome Location	chr14:35764235-35764236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35762611..35765182-chr14:35880296..35882619,2	K562	blood:
2	chr14:35757780..35767592-chr14:35866063..35878024,53	MCF-7	breast:
3	chr14:35763961..35764722-chr17:56709176..56710000,2	MCF-7	breast:
4	chr14:35701125..35703592-chr14:35762146..35764422,2	MCF-7	breast:
5	chr14:35761890..35767767-chr14:35871223..35875046,8	K562	blood:
6	chr14:35763080..35765371-chr14:35856574..35858405,2	MCF-7	breast:
7	chr14:35683125..35684934-chr14:35764206..35766874,2	MCF-7	breast:
8	chr14:35757192..35766588-chr14:35865950..35877395,53	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240023	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11156878	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11620737	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11623882	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11624462	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11627092	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11627958	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11628446	0.81[AFR][1000 genomes]
rs1475041	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1963154	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4432181	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56380926	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61988266	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61988267	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61988269	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61988270	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61988271	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61988276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61989543	0.90[AFR][1000 genomes]
rs61989544	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61989545	0.90[AFR][1000 genomes]
rs61989546	0.90[AFR][1000 genomes]
rs61989547	0.90[AFR][1000 genomes]
rs7153434	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155760	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7158151	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7158706	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8018597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021880	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35760600-35765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:35761000-35764400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:35761800-35764400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr14:35761800-35767400	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr14:35762200-35764400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:35762200-35764400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:35762200-35764600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr14:35762600-35764400	Weak transcription	Gastric	stomach
9	chr14:35762600-35774400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:35762600-35778400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:35762800-35766000	Enhancers	Fetal Lung	lung
12	chr14:35762800-35768200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:35762800-35778600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:35762800-35778800	Weak transcription	Aorta	Aorta
15	chr14:35763200-35764600	Enhancers	Brain Anterior Caudate	brain
16	chr14:35763200-35764600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr14:35763200-35764800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:35763200-35765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:35763200-35766200	Enhancers	Fetal Brain Male	brain
20	chr14:35763200-35777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:35763200-35778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
23	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:35763400-35764600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:35763400-35765800	Enhancers	Spleen	Spleen
26	chr14:35763600-35764400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
27	chr14:35763600-35764400	Flanking Active TSS	Hela-S3	cervix
28	chr14:35763600-35764600	Transcr. at gene 5' and 3'	HepG2	liver
29	chr14:35763600-35765000	Weak transcription	Fetal Heart	heart
30	chr14:35763600-35765200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:35763600-35765400	Genic enhancers	Fetal Brain Female	brain
32	chr14:35763600-35775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:35763600-35776800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:35763600-35777000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:35763600-35778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:35763800-35764400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:35763800-35764400	Weak transcription	Fetal Stomach	stomach
38	chr14:35763800-35764400	Weak transcription	Lung	lung
39	chr14:35763800-35764400	Enhancers	HSMMtube	muscle
40	chr14:35763800-35764600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:35763800-35764600	Genic enhancers	Brain Germinal Matrix	brain
42	chr14:35763800-35764600	Genic enhancers	Fetal Intestine Small	intestine
43	chr14:35763800-35764800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:35763800-35765000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:35763800-35765000	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:35763800-35765200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:35763800-35766800	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:35763800-35767000	Enhancers	Left Ventricle	heart
49	chr14:35763800-35768200	Weak transcription	NH-A	brain
50	chr14:35763800-35777200	Weak transcription	Placenta	Placenta

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