Variant report

Variant	rs12878391
Chromosome Location	chr14:35772578-35772579
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35772058..35774272-chr14:35810527..35812254,2	MCF-7	breast:
2	chr14:35766917..35773748-chr14:35871554..35875430,9	MCF-7	breast:
3	chr14:35769773..35772812-chr14:35867526..35872347,5	MCF-7	breast:
4	chr14:35745755..35748037-chr14:35772284..35774064,2	MCF-7	breast:
5	chr14:35760099..35762622-chr14:35771893..35774075,2	K562	blood:
6	chr14:35772430..35773960-chr14:35775066..35776587,2	MCF-7	breast:
7	chr14:35772043..35775024-chr14:35868895..35870783,2	K562	blood:
8	chr14:35769727..35774156-chr14:35872374..35875665,4	K562	blood:
9	chr14:35767852..35773242-chr14:35799435..35804534,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000265530	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10134834	0.90[ASN][1000 genomes]
rs11156876	0.89[ASN][1000 genomes]
rs11621075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12433113	0.87[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs12587689	0.81[ASN][1000 genomes]
rs17512585	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884716	0.90[ASN][1000 genomes]
rs1951273	1.00[JPT][hapmap]
rs1957107	0.83[JPT][hapmap]
rs2415276	0.92[ASN][1000 genomes]
rs2415277	0.92[ASN][1000 genomes]
rs2415279	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415286	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525079	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2899831	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.94[ASN][1000 genomes]
rs34031432	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs35992180	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3742370	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4530028	0.94[ASN][1000 genomes]
rs4981273	0.88[ASN][1000 genomes]
rs6571710	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143346	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.95[ASN][1000 genomes]
rs7157492	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7157736	0.90[ASN][1000 genomes]
rs7158402	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8003136	0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs8004740	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8005078	0.93[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs8008319	0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs8009707	0.83[JPT][hapmap]
rs8015175	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8181982	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35762600-35774400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35762600-35778400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:35762800-35778600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:35762800-35778800	Weak transcription	Aorta	Aorta
5	chr14:35763200-35777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:35763200-35778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
8	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:35763600-35775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:35763600-35776800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:35763600-35777000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:35763600-35778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:35763800-35777200	Weak transcription	Placenta	Placenta
14	chr14:35763800-35777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:35763800-35777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:35763800-35777800	Weak transcription	HSMM	muscle
17	chr14:35763800-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:35763800-35778600	Weak transcription	Colonic Mucosa	Colon
19	chr14:35763800-35778600	Weak transcription	Esophagus	oesophagus
20	chr14:35763800-35778600	Weak transcription	Ovary	ovary
21	chr14:35763800-35779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:35764000-35772600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:35764000-35778200	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:35764000-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:35764000-35779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:35764200-35777000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:35764200-35777200	Weak transcription	Osteobl	bone
28	chr14:35764200-35778200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:35764400-35773200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr14:35764400-35774000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:35764400-35777800	Weak transcription	NHLF	lung
32	chr14:35764600-35778600	Weak transcription	Brain Anterior Caudate	brain
33	chr14:35764600-35778600	Weak transcription	Brain Germinal Matrix	brain
34	chr14:35764800-35772600	Weak transcription	Right Ventricle	heart
35	chr14:35765200-35773200	Weak transcription	Fetal Stomach	stomach
36	chr14:35765200-35774400	Weak transcription	Right Atrium	heart
37	chr14:35765200-35778600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:35765200-35778800	Weak transcription	Brain Angular Gyrus	brain
39	chr14:35765200-35779800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:35765400-35773400	Weak transcription	Fetal Intestine Large	intestine
41	chr14:35765400-35777000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:35765400-35778400	Weak transcription	Fetal Brain Female	brain
43	chr14:35765400-35778800	Weak transcription	Gastric	stomach
44	chr14:35765400-35779400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:35765400-35782400	Weak transcription	K562	blood
46	chr14:35765600-35776800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:35765800-35773200	Weak transcription	Fetal Intestine Small	intestine
48	chr14:35765800-35778600	Weak transcription	Lung	lung
49	chr14:35766000-35772600	Weak transcription	Fetal Lung	lung
50	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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