Variant report

Variant	rs8015516
Chromosome Location	chr14:68832814-68832815
allele	C/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	chr14:68831265..68833449-chr14:68839230..68840971,2	K562	blood:
2	chr14:68655604..68658456-chr14:68831451..68833713,2	MCF-7	breast:
3	chr14:68827902..68830472-chr14:68830504..68833278,2	MCF-7	breast:
4	chr14:68830853..68833594-chr14:68845594..68847240,2	MCF-7	breast:
5	chr14:68832613..68834269-chr14:69259859..69261484,2	MCF-7	breast:
6	chr14:68829901..68834300-chr14:68923345..68927378,4	MCF-7	breast:
7	chr14:68830049..68833032-chr14:68833353..68836919,3	MCF-7	breast:
8	chr14:68831946..68833547-chr14:69257471..69259179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10132981	0.99[EUR][1000 genomes]
rs10454686	0.94[CEU][hapmap];0.99[EUR][1000 genomes]
rs11158737	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs12589872	0.97[EUR][1000 genomes]
rs12889206	0.86[MEX][hapmap]
rs17755674	0.84[CEU][hapmap]
rs1956538	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs1964854	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2064910	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2331703	0.89[CEU][hapmap];0.86[MEX][hapmap]
rs2331704	0.90[CEU][hapmap];0.86[MEX][hapmap]
rs2525507	0.90[CEU][hapmap];0.86[MEX][hapmap]
rs2753403	0.90[CEU][hapmap]
rs2842320	0.90[CEU][hapmap]
rs2877475	0.91[EUR][1000 genomes]
rs3784118	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs3966077	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs4902571	1.00[CEU][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902578	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs4902587	0.90[CEU][hapmap]
rs4902588	0.90[CEU][hapmap]
rs4902589	0.90[CEU][hapmap]
rs6573834	0.86[MEX][hapmap]
rs7145422	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7150454	0.86[MEX][hapmap]
rs8009876	0.86[MEX][hapmap]
rs8013026	0.94[CEU][hapmap];1.00[EUR][1000 genomes]
rs8019592	0.85[GIH][hapmap]
rs9323510	0.90[CEU][hapmap]
rs975422	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68826200-68835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:68827200-68833000	Weak transcription	Psoas Muscle	Psoas
3	chr14:68827200-68833400	Weak transcription	Esophagus	oesophagus
4	chr14:68827200-68834200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:68827200-68834400	Weak transcription	Small Intestine	intestine
6	chr14:68827200-68834800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:68827400-68835000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:68828200-68835000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:68829600-68835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:68829600-68837400	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:68829600-68837400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:68829800-68833600	Enhancers	Primary T cells from cord blood	blood
13	chr14:68829800-68837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:68830000-68835200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:68830200-68833800	Enhancers	A549	lung
16	chr14:68830200-68834400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:68830200-68836200	Enhancers	Fetal Lung	lung
18	chr14:68830600-68833000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:68830600-68836800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:68830800-68833600	Enhancers	Colon Smooth Muscle	Colon
21	chr14:68830800-68835200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:68831000-68835800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68831200-68833000	Enhancers	NHLF	lung
24	chr14:68831200-68833200	Weak transcription	Primary B cells from cord blood	blood
25	chr14:68831200-68833800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:68831200-68833800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:68831200-68834600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:68831400-68833200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:68831400-68835000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:68831600-68836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:68831800-68833800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:68831800-68834200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:68831800-68838400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:68831800-68841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:68831800-68844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:68832000-68833000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:68832000-68833000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:68832000-68833200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:68832000-68833200	Weak transcription	Aorta	Aorta
40	chr14:68832000-68833200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:68832000-68833200	Weak transcription	Spleen	Spleen
42	chr14:68832000-68833400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:68832000-68833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:68832000-68833400	Weak transcription	Right Atrium	heart
45	chr14:68832000-68834200	Weak transcription	Fetal Thymus	thymus
46	chr14:68832000-68834200	Weak transcription	HSMM	muscle
47	chr14:68832000-68834400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:68832000-68834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:68832000-68835200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:68832000-68835600	Weak transcription	Brain Inferior Temporal Lobe	brain

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