Variant report

Variant	rs3784144
Chromosome Location	chr14:70092934-70092935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70091590..70094209-chr14:70097904..70100674,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11620826	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622092	0.80[EUR][1000 genomes]
rs11623812	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627867	0.82[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629212	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12587433	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1275747	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs1275748	0.88[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275749	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107177	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1763223	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1957365	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275124	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3784143	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784149	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3825736	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899310	0.92[ASN][1000 genomes]
rs4902742	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57016627	0.82[EUR][1000 genomes]
rs61980727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61980737	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61982060	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982061	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982064	0.80[EUR][1000 genomes]
rs61982065	0.80[EUR][1000 genomes]
rs8010776	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8020026	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
3	chr14:70083400-70093400	Enhancers	Brain Hippocampus Middle	brain
4	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
5	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:70087200-70100000	Weak transcription	NHEK	skin
7	chr14:70088000-70098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:70088600-70095800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:70088600-70099200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:70089600-70096000	Weak transcription	Ovary	ovary
11	chr14:70090200-70093800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:70090400-70098600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:70090600-70093800	Enhancers	Liver	Liver
14	chr14:70090800-70093200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr14:70091000-70093000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:70091400-70093200	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:70091600-70093000	Enhancers	Fetal Heart	heart
18	chr14:70091800-70093000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:70091800-70093000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr14:70091800-70093000	Flanking Active TSS	Dnd41	blood
21	chr14:70091800-70093200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr14:70091800-70093200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:70091800-70093200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:70091800-70093200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:70091800-70093200	Flanking Active TSS	GM12878-XiMat	blood
26	chr14:70091800-70093400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr14:70091800-70093600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:70091800-70101000	Enhancers	Left Ventricle	heart
29	chr14:70092000-70093000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr14:70092000-70093000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr14:70092000-70093000	Enhancers	Brain Anterior Caudate	brain
32	chr14:70092000-70093000	Enhancers	Fetal Lung	lung
33	chr14:70092000-70093000	Enhancers	Stomach Mucosa	stomach
34	chr14:70092000-70093000	Enhancers	Stomach Smooth Muscle	stomach
35	chr14:70092000-70093200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr14:70092000-70093200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:70092000-70093200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:70092000-70093200	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:70092000-70093200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:70092000-70093200	Enhancers	Brain Substantia Nigra	brain
41	chr14:70092000-70093200	Enhancers	Placenta	Placenta
42	chr14:70092000-70093200	Enhancers	Right Atrium	heart
43	chr14:70092000-70093400	Enhancers	Spleen	Spleen
44	chr14:70092000-70093600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:70092000-70093800	Enhancers	Right Ventricle	heart
46	chr14:70092200-70093000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr14:70092200-70093000	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr14:70092200-70093200	Enhancers	Fetal Muscle Leg	muscle
49	chr14:70092200-70093400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr14:70092200-70093400	Flanking Active TSS	K562	blood

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