Variant report

Variant	rs4144027
Chromosome Location	chr14:104357638-104357639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104342467..104345187-chr14:104355394..104358113,2	MCF-7	breast:
2	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
3	chr14:104308464..104311195-chr14:104356027..104358587,2	MCF-7	breast:
4	chr14:104311422..104315545-chr14:104356597..104360992,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10133399	0.99[EUR][1000 genomes]
rs10135198	0.88[EUR][1000 genomes]
rs10135270	0.89[EUR][1000 genomes]
rs10139856	0.94[EUR][1000 genomes]
rs10150898	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10438242	0.88[EUR][1000 genomes]
rs10438243	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10438244	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11160769	0.85[EUR][1000 genomes]
rs11160770	0.85[EUR][1000 genomes]
rs12879686	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35551424	0.89[EUR][1000 genomes]
rs35924317	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4900601	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55696130	0.89[EUR][1000 genomes]
rs55924227	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56126771	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576010	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs66473563	0.85[EUR][1000 genomes]
rs67727470	0.84[EUR][1000 genomes]
rs71417884	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71417885	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72712857	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8008020	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8015761	0.82[EUR][1000 genomes]
rs881056	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs881057	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs911338	0.82[EUR][1000 genomes];0.85[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	nsv9174	chr14:104352172-104362943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Blood metabolite levels	24816252	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
5	chr14:104353200-104358400	Enhancers	Stomach Mucosa	stomach
6	chr14:104353400-104357800	Enhancers	Esophagus	oesophagus
7	chr14:104353400-104357800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr14:104353400-104358000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr14:104353600-104362800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:104354600-104358800	Flanking Active TSS	HepG2	liver
11	chr14:104355000-104359000	Enhancers	Spleen	Spleen
12	chr14:104355600-104358200	Enhancers	Adipose Nuclei	Adipose
13	chr14:104355600-104360200	Weak transcription	Fetal Intestine Small	intestine
14	chr14:104355800-104357800	Enhancers	Left Ventricle	heart
15	chr14:104355800-104358000	Enhancers	Right Ventricle	heart
16	chr14:104355800-104358200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr14:104355800-104358400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:104355800-104362200	Enhancers	Liver	Liver
19	chr14:104356000-104358200	Enhancers	Fetal Muscle Leg	muscle
20	chr14:104356000-104362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:104356400-104357800	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:104356400-104358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:104356400-104362800	Weak transcription	NHEK	skin
24	chr14:104356800-104360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:104356800-104364000	Weak transcription	HMEC	breast
26	chr14:104357000-104358000	Enhancers	Gastric	stomach
27	chr14:104357200-104358000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr14:104357200-104360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:104357400-104357800	Enhancers	Stomach Smooth Muscle	stomach
30	chr14:104357400-104360200	Weak transcription	Colonic Mucosa	Colon
31	chr14:104357400-104360200	Weak transcription	Placenta	Placenta
32	chr14:104357600-104357800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:104357600-104357800	Enhancers	Ovary	ovary
34	chr14:104357600-104358400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:104357600-104360600	Weak transcription	Lung	lung
36	chr14:104357600-104362800	Weak transcription	Small Intestine	intestine

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