Variant report

Variant	rs1114051
Chromosome Location	chr14:55261917-55261918
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:54953298..54955664-chr14:55259319..55262021,2	MCF-7	breast:
2	chr14:55255469..55258062-chr14:55260338..55262456,2	K562	blood:
3	chr14:55258433..55260433-chr14:55261576..55263537,2	K562	blood:

Variant related genes	Relation type
ENSG00000197045	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10136563	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138916	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1040877	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158024	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs11431	0.96[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs12586289	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12886835	0.84[EUR][1000 genomes]
rs12886870	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12887011	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2181049	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281650	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281652	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2281653	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2295824	0.91[JPT][hapmap]
rs3813402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4402472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4409990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4506812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4508355	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4511452	0.87[EUR][1000 genomes]
rs4516125	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4898855	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4901541	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs4901542	0.82[JPT][hapmap]
rs4901547	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4901548	0.85[CEU][hapmap]
rs6572975	1.00[CEU][hapmap];0.94[CHB][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6572976	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6572977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6572978	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6572980	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709939	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7143189	0.82[JPT][hapmap]
rs7148657	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7150498	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7150628	1.00[CEU][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7151853	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155922	0.83[JPT][hapmap]
rs7158665	0.82[JPT][hapmap]
rs8006657	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8011598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8011837	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011848	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013211	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911614	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs911615	1.00[ASN][1000 genomes]
rs927379	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927380	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927381	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55241200-55272200	Weak transcription	A549	lung
3	chr14:55257200-55272400	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:55257400-55263800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:55257800-55262400	Weak transcription	Osteobl	bone
6	chr14:55257800-55263200	Weak transcription	HSMMtube	muscle
7	chr14:55257800-55272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:55258000-55262200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:55258000-55262400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:55258000-55262400	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:55258000-55262400	Weak transcription	HepG2	liver
12	chr14:55258000-55262800	Weak transcription	HMEC	breast
13	chr14:55258000-55262800	Weak transcription	HUVEC	blood vessel
14	chr14:55258000-55263200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:55258000-55265000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:55258000-55268000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:55258000-55272200	Weak transcription	Right Ventricle	heart
18	chr14:55258200-55262200	Weak transcription	Fetal Intestine Large	intestine
19	chr14:55258200-55263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:55258600-55262000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:55259400-55263200	Weak transcription	NHDF-Ad	bronchial
22	chr14:55260800-55263400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:55261000-55262000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:55261200-55262200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:55261200-55262600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:55261400-55262000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr14:55261400-55262200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:55261400-55262200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:55261400-55262200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:55261400-55262200	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr14:55261400-55262200	ZNF genes & repeats	NHLF	lung
32	chr14:55261600-55262000	ZNF genes & repeats	Spleen	Spleen
33	chr14:55261600-55262200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:55261600-55262200	ZNF genes & repeats	Aorta	Aorta
35	chr14:55261600-55262400	ZNF genes & repeats	HSMM	muscle
36	chr14:55261800-55262000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr14:55261800-55262000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
38	chr14:55261800-55262000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:55261800-55263200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:55261800-55264600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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