Variant report

Variant	rs7145422
Chromosome Location	chr14:68861465-68861466
allele	G/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	chr14:68859762..68864000-chr14:68864300..68866609,3	K562	blood:
2	chr14:68860545..68863012-chr14:68924709..68926828,2	MCF-7	breast:
3	chr14:68815687..68818492-chr14:68859330..68861722,2	MCF-7	breast:
4	chr14:68858725..68872867-chr14:69250734..69263104,36	MCF-7	breast:
5	chr14:68861164..68863928-chr14:68868911..68870731,2	K562	blood:
6	chr14:68859979..68862090-chr14:68925299..68927584,2	MCF-7	breast:
7	chr11:62623040..62625036-chr14:68860166..68863068,2	MCF-7	breast:
8	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168003	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10132981	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10454686	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11158737	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158742	1.00[JPT][hapmap]
rs12435006	1.00[JPT][hapmap]
rs12588330	1.00[JPT][hapmap]
rs12589872	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12897307	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17755674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1956538	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964854	0.91[EUR][1000 genomes]
rs2064910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2331703	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2331704	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2525507	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs2753403	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2842320	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs2877475	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3784118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3966077	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899241	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4899243	1.00[JPT][hapmap]
rs4902571	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902578	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902580	1.00[JPT][hapmap]
rs4902581	1.00[JPT][hapmap]
rs4902582	0.84[ASN][1000 genomes]
rs4902587	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4902588	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4902589	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8003606	1.00[CHB][hapmap]
rs8013026	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8015516	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs8019592	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9323510	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9743896	0.84[ASN][1000 genomes]
rs975422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68847600-68862600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68852200-68864200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:68852400-68862600	Enhancers	Fetal Stomach	stomach
4	chr14:68854200-68861600	Weak transcription	A549	lung
5	chr14:68854400-68863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:68856400-68863000	Enhancers	Rectal Smooth Muscle	rectum
7	chr14:68856600-68865400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:68857000-68862600	Enhancers	Adipose Nuclei	Adipose
9	chr14:68857000-68865800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:68857200-68863200	Enhancers	Fetal Muscle Leg	muscle
11	chr14:68857600-68861600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:68857600-68861800	Enhancers	Psoas Muscle	Psoas
13	chr14:68857600-68862600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:68858000-68862200	Enhancers	Fetal Intestine Small	intestine
15	chr14:68858000-68862600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:68858000-68863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:68858000-68863000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr14:68858000-68865200	Enhancers	NHLF	lung
19	chr14:68858000-68865800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:68858200-68865600	Enhancers	Placenta	Placenta
21	chr14:68858400-68862600	Enhancers	Fetal Intestine Large	intestine
22	chr14:68858400-68865200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:68858600-68862400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:68858600-68864200	Weak transcription	Pancreas	Pancrea
25	chr14:68858800-68865600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:68859000-68862000	Enhancers	Fetal Thymus	thymus
27	chr14:68859000-68865400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:68859000-68865800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr14:68859200-68861600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:68859200-68862000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:68859200-68862800	Enhancers	GM12878-XiMat	blood
32	chr14:68859200-68865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:68859600-68861600	Weak transcription	Colonic Mucosa	Colon
34	chr14:68859600-68863800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:68859600-68864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:68859800-68863000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:68859800-68863600	Weak transcription	HepG2	liver
38	chr14:68859800-68864000	Weak transcription	HSMMtube	muscle
39	chr14:68859800-68871400	Weak transcription	Gastric	stomach
40	chr14:68860000-68862600	Enhancers	Fetal Heart	heart
41	chr14:68860000-68863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:68860000-68863800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr14:68860000-68863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:68860200-68862800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:68860200-68863200	Enhancers	Fetal Lung	lung
46	chr14:68860400-68862000	Enhancers	Fetal Muscle Trunk	muscle
47	chr14:68860600-68862400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:68860600-68862800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:68860600-68863000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:68860600-68863200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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