Variant report

Variant	rs1956538
Chromosome Location	chr14:68859895-68859896
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68859772..68860938-chr14:68925459..68926117,4	MCF-7	breast:
2	chr14:68859762..68864000-chr14:68864300..68866609,3	K562	blood:
3	chr14:68815687..68818492-chr14:68859330..68861722,2	MCF-7	breast:
4	chr14:68858725..68872867-chr14:69250734..69263104,36	MCF-7	breast:
5	chr14:68853183..68855345-chr14:68857731..68860425,2	MCF-7	breast:
6	chr14:68772006..68774529-chr14:68858982..68860714,2	MCF-7	breast:
7	chr14:68857574..68861262-chr14:68863734..68866586,4	K562	blood:
8	chr14:68858670..68861101-chr14:68933221..68935171,2	MCF-7	breast:
9	chr14:68774941..68776993-chr14:68858401..68860071,2	MCF-7	breast:
10	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000185650	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	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10454686	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158737	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[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	0.84[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12897307	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17755674	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1964854	0.92[EUR][1000 genomes]
rs2064910	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2331703	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2331704	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2525507	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2753403	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2842320	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2877475	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784118	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3966077	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899241	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4899243	1.00[JPT][hapmap]
rs4902571	0.94[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4902578	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[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	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4902588	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4902589	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7145422	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]
rs8003606	1.00[CHB][hapmap]
rs8013026	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8015516	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs8019592	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9323510	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9743896	0.84[ASN][1000 genomes]
rs975422	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[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:91 , 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	chr14:68850200-68861000	Enhancers	Colon Smooth Muscle	Colon
3	chr14:68851800-68861000	Weak transcription	Stomach Mucosa	stomach
4	chr14:68852200-68864200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:68852400-68862600	Enhancers	Fetal Stomach	stomach
6	chr14:68853600-68861000	Weak transcription	Spleen	Spleen
7	chr14:68854000-68861400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:68854200-68861600	Weak transcription	A549	lung
9	chr14:68854400-68863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:68856400-68863000	Enhancers	Rectal Smooth Muscle	rectum
11	chr14:68856600-68865400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:68857000-68861400	Enhancers	Brain Anterior Caudate	brain
13	chr14:68857000-68861400	Enhancers	Brain Substantia Nigra	brain
14	chr14:68857000-68861400	Enhancers	Stomach Smooth Muscle	stomach
15	chr14:68857000-68862600	Enhancers	Adipose Nuclei	Adipose
16	chr14:68857000-68865800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:68857200-68863200	Enhancers	Fetal Muscle Leg	muscle
18	chr14:68857400-68860000	Enhancers	Brain Hippocampus Middle	brain
19	chr14:68857400-68860000	Enhancers	Osteobl	bone
20	chr14:68857400-68860200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:68857600-68861200	Enhancers	Fetal Kidney	kidney
22	chr14:68857600-68861600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:68857600-68861800	Enhancers	Psoas Muscle	Psoas
24	chr14:68857600-68862600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:68857800-68860200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:68858000-68861400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:68858000-68862200	Enhancers	Fetal Intestine Small	intestine
28	chr14:68858000-68862600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:68858000-68863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:68858000-68863000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:68858000-68865200	Enhancers	NHLF	lung
32	chr14:68858000-68865800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr14:68858200-68860000	Enhancers	Small Intestine	intestine
34	chr14:68858200-68865600	Enhancers	Placenta	Placenta
35	chr14:68858400-68862600	Enhancers	Fetal Intestine Large	intestine
36	chr14:68858400-68865200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:68858600-68860000	Enhancers	Brain Angular Gyrus	brain
38	chr14:68858600-68860200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:68858600-68860600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:68858600-68860600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr14:68858600-68862400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr14:68858600-68864200	Weak transcription	Pancreas	Pancrea
43	chr14:68858800-68865600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:68859000-68860200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:68859000-68860400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:68859000-68860800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:68859000-68861200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:68859000-68861200	Enhancers	Primary B cells from cord blood	blood
49	chr14:68859000-68861200	Enhancers	Primary B cells from peripheral blood	blood
50	chr14:68859000-68862000	Enhancers	Fetal Thymus	thymus

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