Variant report

Variant	rs2783780
Chromosome Location	chr14:21460002-21460003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21452044..21453634-chr14:21457203..21461213,3	MCF-7	breast:
2	chr14:21459924..21461847-chr14:21557353..21559934,2	MCF-7	breast:
3	chr14:21458248..21461851-chr14:21463411..21466207,3	K562	blood:
4	chr14:21456868..21460721-chr14:21463900..21468435,6	MCF-7	breast:
5	chr14:21458581..21460223-chr14:21499152..21500713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165792	Chromatin interaction
ENSG00000258471	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000258714	Chromatin interaction
ENSG00000258599	Chromatin interaction
ENSG00000165794	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2234638	1.00[EUR][1000 genomes]
rs2245824	1.00[EUR][1000 genomes]
rs2741728	1.00[EUR][1000 genomes]
rs2741733	1.00[EUR][1000 genomes]
rs2771328	1.00[EUR][1000 genomes]
rs2771330	1.00[EUR][1000 genomes]
rs2771331	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2771333	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2783783	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2783790	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73571930	1.00[EUR][1000 genomes]
rs73583894	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
10	nsv901475	chr14:21426282-21465489	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21458800-21460200	Weak transcription	Aorta	Aorta
2	chr14:21458800-21462000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21458800-21462400	Weak transcription	Esophagus	oesophagus
4	chr14:21458800-21467400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:21459000-21460200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:21459000-21460200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:21459000-21460200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr14:21459000-21460400	Enhancers	Fetal Brain Male	brain
9	chr14:21459000-21462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:21459200-21460200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:21459200-21460200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:21459200-21460200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:21459200-21460200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr14:21459200-21460200	Weak transcription	Lung	lung
15	chr14:21459200-21460200	Enhancers	Pancreas	Pancrea
16	chr14:21459200-21460400	Genic enhancers	Brain Anterior Caudate	brain
17	chr14:21459200-21460400	Genic enhancers	Fetal Intestine Large	intestine
18	chr14:21459200-21460400	Genic enhancers	Fetal Stomach	stomach
19	chr14:21459200-21461600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:21459200-21462600	Weak transcription	Gastric	stomach
21	chr14:21459400-21460200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:21459400-21460200	Weak transcription	Spleen	Spleen
23	chr14:21459400-21460400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:21459400-21460400	Enhancers	Fetal Heart	heart
25	chr14:21459400-21460400	Genic enhancers	Fetal Intestine Small	intestine
26	chr14:21459400-21460600	Weak transcription	Psoas Muscle	Psoas
27	chr14:21459400-21460800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:21459400-21463000	Weak transcription	Stomach Mucosa	stomach
29	chr14:21459600-21460200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:21459600-21460200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:21459600-21460200	Weak transcription	Primary B cells from cord blood	blood
32	chr14:21459600-21460200	Weak transcription	Primary T cells from cord blood	blood
33	chr14:21459600-21460200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:21459600-21460200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:21459600-21460200	Enhancers	Brain Germinal Matrix	brain
36	chr14:21459600-21460200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:21459600-21460200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:21459600-21460200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:21459600-21460200	Weak transcription	Ovary	ovary
40	chr14:21459600-21460200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:21459600-21460200	Weak transcription	Right Ventricle	heart
42	chr14:21459600-21460200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:21459600-21460200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:21459600-21460200	Enhancers	Thymus	Thymus
45	chr14:21459600-21460200	Weak transcription	GM12878-XiMat	blood
46	chr14:21459600-21460200	Weak transcription	NHDF-Ad	bronchial
47	chr14:21459600-21460400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:21459600-21460400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:21459600-21460400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:21459600-21460400	Weak transcription	Colonic Mucosa	Colon

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