Variant report

Variant	rs8019156
Chromosome Location	chr14:71278113-71278114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr14:71277786-71278183	GM12878	blood:	n/a	n/a
2	RUNX3	chr14:71277751-71278192	GM12878	blood:	n/a	n/a
3	RUNX3	chr14:71277777-71278124	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71102508..71105172-chr14:71277207..71278775,2	MCF-7	breast:
2	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
3	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
4	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
5	chr14:71275321..71276832-chr14:71277641..71279506,2	MCF-7	breast:
6	chr14:71278091..71280496-chr14:71292784..71294745,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAP3K9	TF binding region
ENSG00000133985	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000245466	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000259115	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11158881	0.81[CHB][hapmap]
rs11622104	0.81[CHB][hapmap]
rs11622989	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11623147	0.81[CHB][hapmap]
rs11844844	0.86[EUR][1000 genomes]
rs12880887	0.81[CHB][hapmap]
rs17108539	0.81[CHB][hapmap]
rs1859464	0.81[CHB][hapmap]
rs2158528	0.81[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36025596	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3829955	0.81[CHB][hapmap]
rs4899371	0.82[CEU][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7140822	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7144786	0.89[CEU][hapmap];0.95[CHB][hapmap]
rs7153775	0.82[ASW][hapmap];0.82[CEU][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7157405	0.86[LWK][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs731571	0.81[CHB][hapmap]
rs8014624	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs8022269	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8022410	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:71274200-71279400	Active TSS	HMEC	breast
4	chr14:71274400-71278200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:71274600-71279400	Active TSS	Esophagus	oesophagus
6	chr14:71274800-71278200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr14:71274800-71278600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:71274800-71279400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:71276000-71278600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr14:71277200-71278200	Flanking Active TSS	GM12878-XiMat	blood
11	chr14:71277200-71278400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:71277200-71278400	Enhancers	Placenta	Placenta
13	chr14:71277200-71278400	Weak transcription	Lung	lung
14	chr14:71277200-71279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:71277200-71279200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:71277200-71288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:71277200-71288400	Weak transcription	Pancreas	Pancrea
18	chr14:71277400-71278200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:71277400-71278200	Enhancers	Dnd41	blood
20	chr14:71277400-71278400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:71277400-71279400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:71277400-71280600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:71277400-71283800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:71277600-71278200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:71277600-71278400	Flanking Active TSS	HepG2	liver
26	chr14:71277600-71278600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr14:71277600-71278600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:71277600-71279600	Flanking Active TSS	NHEK	skin
29	chr14:71277800-71278200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr14:71277800-71278400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:71277800-71279000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:71277800-71279000	Flanking Active TSS	A549	lung
33	chr14:71277800-71279200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:71277800-71282000	Enhancers	Fetal Brain Male	brain
35	chr14:71277800-71284200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:71277800-71288000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:71278000-71278200	Bivalent Enhancer	Brain Germinal Matrix	brain
38	chr14:71278000-71278400	Active TSS	Fetal Brain Female	brain
39	chr14:71278000-71278800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:71278000-71278800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:71278000-71278800	Weak transcription	Brain Anterior Caudate	brain
42	chr14:71278000-71279000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:71278000-71279200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:71278000-71279600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:71278000-71283800	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:71278000-71284200	Weak transcription	Hela-S3	cervix

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