Variant report

Variant	rs28736513
Chromosome Location	chr14:104350991-104350992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104005381..104007221-chr14:104349678..104351959,2	K562	blood:
2	chr14:104347054..104348741-chr14:104350069..104352618,2	K562	blood:
3	chr14:104320594..104323018-chr14:104349310..104351645,2	MCF-7	breast:
4	chr14:104343585..104349004-chr14:104350289..104354893,7	MCF-7	breast:
5	chr14:104348645..104351214-chr14:104375295..104378157,2	MCF-7	breast:
6	chr14:104348563..104351528-chr14:104352651..104356401,4	K562	blood:

Variant related genes	Relation type
ENSG00000258534	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10140292	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10140390	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10145882	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12431625	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12437404	0.84[AMR][1000 genomes]
rs2003053	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28720127	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4906380	0.80[AMR][1000 genomes]
rs4906381	0.87[AMR][1000 genomes]
rs55920546	0.84[AMR][1000 genomes]
rs58887008	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7149148	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73350570	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv1800828	chr14:104343852-104351500	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104346600-104352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:104346800-104352600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:104347400-104352200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:104347400-104352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:104347800-104353000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:104348000-104351800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:104348200-104351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:104348400-104351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:104348400-104353000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:104348600-104355600	Weak transcription	Small Intestine	intestine
13	chr14:104349200-104352800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:104349600-104355800	Weak transcription	Left Ventricle	heart
15	chr14:104349800-104351200	Weak transcription	Liver	Liver
16	chr14:104349800-104351200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:104349800-104351200	Weak transcription	Placenta	Placenta
18	chr14:104349800-104351200	Weak transcription	HepG2	liver
19	chr14:104349800-104351800	Weak transcription	Fetal Intestine Small	intestine
20	chr14:104349800-104352000	Weak transcription	Fetal Intestine Large	intestine
21	chr14:104349800-104352800	Weak transcription	Ovary	ovary
22	chr14:104349800-104353200	Weak transcription	Lung	lung
23	chr14:104349800-104353200	Weak transcription	Stomach Mucosa	stomach
24	chr14:104349800-104353400	Weak transcription	Esophagus	oesophagus
25	chr14:104349800-104353400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:104349800-104353400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:104349800-104353600	Weak transcription	Colonic Mucosa	Colon
28	chr14:104349800-104354000	Weak transcription	Right Ventricle	heart
29	chr14:104349800-104354800	Weak transcription	Gastric	stomach
30	chr14:104350000-104351200	Weak transcription	Spleen	Spleen
31	chr14:104350000-104352000	Weak transcription	Pancreas	Pancrea
32	chr14:104350000-104352400	Weak transcription	Fetal Lung	lung
33	chr14:104350000-104353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:104350000-104354000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:104350800-104351000	Enhancers	Brain Substantia Nigra	brain

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