Variant report

Variant	rs57648252
Chromosome Location	chr14:104304273-104304274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104304063..104305648-chr14:104312730..104314695,2	MCF-7	breast:
2	chr14:104286358..104288545-chr14:104303445..104306380,2	MCF-7	breast:
3	chr14:104297254..104299435-chr14:104303576..104305430,2	MCF-7	breast:
4	chr14:104301948..104304307-chr14:104306264..104308563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10145063	1.00[AMR][1000 genomes]
rs10145840	1.00[AMR][1000 genomes]
rs17095273	1.00[AMR][1000 genomes]
rs17101877	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721938	1.00[AMR][1000 genomes]
rs35169220	1.00[AMR][1000 genomes]
rs59855870	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	nsv902320	chr14:104274294-104308095	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104292000-104312400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:104292800-104309000	Weak transcription	Fetal Intestine Small	intestine
3	chr14:104295200-104306000	Weak transcription	HMEC	breast
4	chr14:104295200-104309000	Weak transcription	Fetal Stomach	stomach
5	chr14:104295200-104311600	Weak transcription	Liver	Liver
6	chr14:104295200-104312200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:104295200-104312400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:104295200-104312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:104295200-104312600	Weak transcription	Small Intestine	intestine
10	chr14:104299000-104305800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:104299000-104306000	Weak transcription	NHEK	skin
12	chr14:104299000-104312200	Weak transcription	Hela-S3	cervix
13	chr14:104300400-104310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:104301400-104306400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:104303000-104310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:104303200-104306000	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:104303400-104304400	Enhancers	Fetal Heart	heart
18	chr14:104303800-104312400	Weak transcription	Adipose Nuclei	Adipose
19	chr14:104304000-104304400	Weak transcription	HepG2	liver
20	chr14:104304000-104305000	Weak transcription	Gastric	stomach
21	chr14:104304000-104305600	Weak transcription	Left Ventricle	heart
22	chr14:104304000-104305800	Weak transcription	Ovary	ovary
23	chr14:104304000-104306000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:104304000-104306000	Weak transcription	Fetal Kidney	kidney
25	chr14:104304000-104306000	Weak transcription	Fetal Lung	lung
26	chr14:104304000-104306400	Weak transcription	Brain Angular Gyrus	brain
27	chr14:104304000-104308800	Weak transcription	Right Atrium	heart
28	chr14:104304000-104309000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:104304000-104309000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:104304000-104310200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:104304000-104311600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:104304000-104312200	Weak transcription	Right Ventricle	heart
33	chr14:104304000-104312400	Weak transcription	Lung	lung
34	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
35	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
36	chr14:104304200-104304400	Weak transcription	Pancreas	Pancrea

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