Variant report

Variant	rs2287397
Chromosome Location	chr14:77796911-77796912
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77796157..77799097-chr6:27100139..27102099,2	MCF-7	breast:
2	chr14:77795091..77797469-chr14:77871259..77873894,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs3742739	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55891221	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56091500	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56403921	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681261	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681262	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681263	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72681264	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681265	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681270	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681275	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681276	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681278	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681279	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681280	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681281	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681283	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72681284	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73311381	0.82[ASN][1000 genomes]
rs8177546	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177560	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177565	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177567	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177568	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177571	0.86[EUR][1000 genomes];0.82[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77788600-77802800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:77788600-77806000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:77788600-77806200	Weak transcription	Thymus	Thymus
4	chr14:77788800-77804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:77788800-77805200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:77788800-77806400	Weak transcription	Colonic Mucosa	Colon
7	chr14:77789000-77804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:77789000-77805200	Weak transcription	Osteobl	bone
9	chr14:77789000-77805400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:77789000-77805400	Weak transcription	A549	lung
11	chr14:77789000-77805600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:77789000-77805600	Weak transcription	Left Ventricle	heart
13	chr14:77789000-77805800	Weak transcription	Fetal Thymus	thymus
14	chr14:77789000-77806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:77789000-77806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:77789000-77806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:77789000-77806000	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:77789000-77806200	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:77789000-77806200	Weak transcription	Lung	lung
20	chr14:77789000-77806400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:77789000-77807600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:77789200-77800800	Weak transcription	Primary B cells from cord blood	blood
23	chr14:77789200-77801000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:77789200-77801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:77789200-77801200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:77789200-77801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:77789200-77801600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:77789200-77801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:77789200-77802000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:77789200-77802000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:77789200-77804400	Weak transcription	Brain Anterior Caudate	brain
32	chr14:77789200-77805200	Weak transcription	Fetal Intestine Large	intestine
33	chr14:77789200-77805400	Weak transcription	GM12878-XiMat	blood
34	chr14:77789200-77805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:77789200-77805600	Weak transcription	Fetal Brain Female	brain
36	chr14:77789200-77805600	Weak transcription	Pancreas	Pancrea
37	chr14:77789200-77805800	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:77789200-77805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:77789200-77805800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:77789200-77806200	Weak transcription	Fetal Lung	lung
41	chr14:77789200-77806400	Weak transcription	Esophagus	oesophagus
42	chr14:77789200-77806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:77789200-77807000	Weak transcription	Brain Angular Gyrus	brain
44	chr14:77789200-77818200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:77789400-77801400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr14:77789400-77801600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:77789400-77805800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:77789400-77806200	Weak transcription	Brain Germinal Matrix	brain
49	chr14:77789600-77806200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:77790400-77801000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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