Variant report

Variant	rs7144053
Chromosome Location	chr14:78166039-78166040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78164522..78168276-chr14:78172771..78175451,7	MCF-7	breast:
2	chr14:78165706..78168281-chr14:78176436..78178608,3	MCF-7	breast:
3	chr14:78081368..78083282-chr14:78164102..78166516,2	MCF-7	breast:
4	chr14:78158386..78160675-chr14:78164018..78166983,2	MCF-7	breast:
5	chr14:78148818..78151260-chr14:78165637..78167371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239272	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10133987	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10134175	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10141070	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483887	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11159286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12882571	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106419	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17106425	1.00[CEU][hapmap]
rs17106489	1.00[CEU][hapmap]
rs17106503	1.00[CEU][hapmap]
rs176942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs176949	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176958	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs176967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287647	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs28481884	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28640141	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28648386	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4622441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903625	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61990714	0.80[ASN][1000 genomes]
rs6574389	1.00[ASN][1000 genomes]
rs7145859	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7148286	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150435	0.81[EUR][1000 genomes]
rs7151514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:78149200-78171400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:78150400-78172200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:78152400-78171200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:78152800-78171400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:78153400-78171200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:78153400-78171400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr14:78153400-78172000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr14:78154400-78168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
15	chr14:78154600-78167200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:78156000-78171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:78156200-78172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:78156600-78171800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:78156800-78170000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:78156800-78171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:78156800-78172400	Strong transcription	Dnd41	blood
22	chr14:78157800-78166200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:78158600-78172800	Weak transcription	NHDF-Ad	bronchial
24	chr14:78159000-78167800	Weak transcription	Gastric	stomach
25	chr14:78160600-78166600	Weak transcription	HUVEC	blood vessel
26	chr14:78162000-78169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:78162600-78168600	Strong transcription	GM12878-XiMat	blood
28	chr14:78162600-78171400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:78163400-78169000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:78163600-78168200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:78163600-78170200	Weak transcription	Fetal Kidney	kidney
32	chr14:78163600-78170600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:78163800-78166400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:78163800-78166400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:78163800-78166600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:78163800-78166600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:78163800-78166600	Weak transcription	A549	lung
38	chr14:78163800-78167000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:78163800-78167000	Weak transcription	Fetal Brain Female	brain
40	chr14:78163800-78167000	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:78163800-78167200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:78163800-78167200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:78163800-78167200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:78163800-78167200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:78163800-78167200	Weak transcription	Brain Angular Gyrus	brain
46	chr14:78163800-78167200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:78163800-78167200	Weak transcription	Fetal Thymus	thymus
48	chr14:78163800-78167200	Weak transcription	Left Ventricle	heart
49	chr14:78163800-78167400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:78163800-78167400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links