Variant report

Variant	rs56087200
Chromosome Location	chr14:104363247-104363248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
2	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:
3	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:
4	chr14:104272756..104274930-chr14:104362407..104364169,2	K562	blood:
5	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:

Variant related genes	Relation type
ENSG00000088808	Chromatin interaction
ENSG00000258735	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10139856	0.80[ASN][1000 genomes]
rs11160769	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11160770	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11160771	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11160772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12879686	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35924317	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4900601	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55924227	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56126771	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56206644	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66473563	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67727470	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71417884	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs71417885	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72712857	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8008020	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8015761	0.80[ASN][1000 genomes]
rs881057	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
9	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
10	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
11	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
12	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
13	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
14	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	esv3333191	chr14:104362552-104363417	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3386538	chr14:104362863-104363261	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 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	chr14:104356800-104364000	Weak transcription	HMEC	breast
2	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:104360400-104363400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr14:104362600-104365800	Enhancers	Fetal Intestine Small	intestine
5	chr14:104362600-104366000	Enhancers	Fetal Intestine Large	intestine
6	chr14:104362800-104363400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr14:104362800-104363600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:104362800-104364800	Enhancers	Right Ventricle	heart
9	chr14:104362800-104365400	Enhancers	Gastric	stomach
10	chr14:104362800-104366600	Enhancers	Esophagus	oesophagus
11	chr14:104363000-104363400	Flanking Active TSS	Liver	Liver
12	chr14:104363000-104363400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr14:104363000-104363400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:104363000-104363800	Flanking Active TSS	HepG2	liver
15	chr14:104363000-104364000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr14:104363200-104363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:104363200-104363400	Genic enhancers	Pancreas	Pancrea
18	chr14:104363200-104363600	Weak transcription	Brain Anterior Caudate	brain
19	chr14:104363200-104363600	Enhancers	Fetal Kidney	kidney
20	chr14:104363200-104363600	Enhancers	Fetal Lung	lung
21	chr14:104363200-104363600	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr14:104363200-104364000	Weak transcription	Brain Substantia Nigra	brain
23	chr14:104363200-104364000	Enhancers	Colonic Mucosa	Colon
24	chr14:104363200-104364200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:104363200-104364200	Enhancers	Colon Smooth Muscle	Colon
26	chr14:104363200-104364200	Weak transcription	Small Intestine	intestine
27	chr14:104363200-104364200	Weak transcription	NHEK	skin
28	chr14:104363200-104365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:104363200-104365200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:104363200-104365800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:104363200-104366000	Enhancers	Stomach Mucosa	stomach
32	chr14:104363200-104366200	Weak transcription	Spleen	Spleen
33	chr14:104363200-104366800	Weak transcription	Left Ventricle	heart
34	chr14:104363200-104367400	Weak transcription	Lung	lung
35	chr14:104363200-104376400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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