Variant report

Variant	rs2256677
Chromosome Location	chr14:21443154-21443155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21441200..21445003-chr14:21451754..21456149,6	MCF-7	breast:
2	chr14:21441390..21444157-chr14:21460821..21462401,2	MCF-7	breast:
3	chr14:21438410..21440043-chr14:21441978..21444200,2	MCF-7	breast:
4	chr14:21439828..21441685-chr14:21441770..21443275,2	K562	blood:
5	chr14:21440683..21443380-chr14:21445496..21447628,2	K562	blood:

Variant related genes	Relation type
ENSG00000258599	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2741727	0.80[EUR][1000 genomes]
rs2771334	0.83[EUR][1000 genomes]
rs2771335	0.82[EUR][1000 genomes]
rs2783786	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1044554	chr14:21334087-21456092	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	nsv1054126	chr14:21432455-21456092	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21440200-21443400	Weak transcription	Fetal Intestine Large	intestine
2	chr14:21440200-21445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:21440200-21446000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:21440200-21447000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:21441000-21443800	Enhancers	HMEC	breast
6	chr14:21441600-21443600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:21441600-21443600	Enhancers	NHEK	skin
8	chr14:21441600-21444000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:21441800-21443800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:21442400-21443600	Enhancers	Osteobl	bone
11	chr14:21442400-21443800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:21442400-21443800	Enhancers	Hela-S3	cervix
13	chr14:21442400-21444000	Enhancers	HepG2	liver
14	chr14:21442400-21444200	Enhancers	NH-A	brain
15	chr14:21442600-21443200	Enhancers	Stomach Mucosa	stomach
16	chr14:21442600-21443400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:21442600-21443800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:21442600-21443800	Enhancers	A549	lung
19	chr14:21442600-21443800	Enhancers	HSMM	muscle
20	chr14:21442600-21443800	Enhancers	NHDF-Ad	bronchial
21	chr14:21442600-21443800	Enhancers	NHLF	lung
22	chr14:21442600-21444000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:21442600-21444400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:21442600-21445000	Enhancers	HUVEC	blood vessel
25	chr14:21442800-21443200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:21442800-21443600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:21442800-21443600	Enhancers	Fetal Intestine Small	intestine
28	chr14:21442800-21444000	Enhancers	Placenta	Placenta

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