Variant report

Variant	rs17675052
Chromosome Location	chr14:55855704-55855705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10483641	0.89[CEU][hapmap]
rs17128484	0.82[CEU][hapmap]
rs17671923	1.00[CEU][hapmap]
rs17672376	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17672950	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17673930	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740413	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17741681	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741825	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17742621	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17743484	0.89[CEU][hapmap]
rs1959443	0.89[CEU][hapmap]
rs35070799	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41437744	0.89[CEU][hapmap];1.00[AFR][1000 genomes]
rs60505634	1.00[ASN][1000 genomes]
rs713473	0.89[CEU][hapmap]
rs713475	0.89[CEU][hapmap]
rs7141706	1.00[CEU][hapmap]
rs7160411	1.00[CEU][hapmap]
rs72717745	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717751	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717752	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717759	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:55832400-55857800	Strong transcription	Liver	Liver
8	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
9	chr14:55839400-55859200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:55839600-55858600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr14:55840200-55858800	Strong transcription	Primary B cells from cord blood	blood
12	chr14:55840400-55856600	Strong transcription	Fetal Intestine Large	intestine
13	chr14:55840400-55856800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55841000-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:55842000-55856200	Strong transcription	Fetal Muscle Leg	muscle
16	chr14:55842200-55856400	Strong transcription	Placenta	Placenta
17	chr14:55847200-55856800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:55848600-55856200	Strong transcription	HepG2	liver
19	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:55848800-55855800	Weak transcription	Brain Angular Gyrus	brain
21	chr14:55848800-55861000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:55848800-55861200	Weak transcription	Small Intestine	intestine
23	chr14:55848800-55861800	Weak transcription	HUVEC	blood vessel
24	chr14:55848800-55864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:55848800-55865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:55849000-55856000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:55849600-55855800	Weak transcription	Fetal Lung	lung
30	chr14:55849800-55865200	Weak transcription	A549	lung
31	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
32	chr14:55850400-55856200	Strong transcription	Ovary	ovary
33	chr14:55850400-55856600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:55850400-55856600	Strong transcription	Fetal Brain Female	brain
35	chr14:55850400-55857000	Strong transcription	Primary T cells from cord blood	blood
36	chr14:55850600-55856800	Strong transcription	Fetal Thymus	thymus
37	chr14:55850600-55856800	Strong transcription	Dnd41	blood
38	chr14:55850600-55858000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr14:55850800-55856600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:55850800-55861400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:55850800-55865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:55850800-55865400	Weak transcription	Aorta	Aorta
43	chr14:55851000-55855800	Weak transcription	Fetal Heart	heart
44	chr14:55851000-55871000	Weak transcription	Pancreas	Pancrea
45	chr14:55851600-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:55852000-55859600	Strong transcription	Adipose Nuclei	Adipose
47	chr14:55852000-55861000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:55852200-55856600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:55852400-55856800	Strong transcription	Stomach Smooth Muscle	stomach

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