Variant report

Variant	rs2003053
Chromosome Location	chr14:104355178-104355179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104332802..104335861-chr14:104354361..104356131,3	MCF-7	breast:
2	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
3	chr14:104313013..104317291-chr14:104352199..104356564,5	MCF-7	breast:
4	chr14:104313694..104314632-chr14:104354396..104355277,2	MCF-7	breast:
5	chr14:104354468..104357405-chr14:104359410..104362163,3	MCF-7	breast:
6	chr14:104348563..104351528-chr14:104352651..104356401,4	K562	blood:
7	chr14:104159591..104160119-chr14:104354333..104355295,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	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	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10140390	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10145882	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12431625	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12437404	0.84[AMR][1000 genomes]
rs28720127	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28736513	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906380	0.80[AMR][1000 genomes]
rs4906381	0.87[AMR][1000 genomes]
rs55920546	0.84[AMR][1000 genomes]
rs58887008	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7149148	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73350570	0.96[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	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

No data

Chromatin state (count:43 , 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	chr14:104348600-104355600	Weak transcription	Small Intestine	intestine
4	chr14:104349600-104355800	Weak transcription	Left Ventricle	heart
5	chr14:104351200-104355200	Enhancers	Placenta	Placenta
6	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:104351400-104355200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:104351800-104355600	Enhancers	Fetal Intestine Small	intestine
9	chr14:104352000-104355600	Enhancers	Fetal Intestine Large	intestine
10	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
11	chr14:104352600-104355600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:104352800-104355600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:104353000-104357200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr14:104353200-104355600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:104353200-104355600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:104353200-104357600	Enhancers	Lung	lung
17	chr14:104353200-104358400	Enhancers	Stomach Mucosa	stomach
18	chr14:104353400-104355800	Weak transcription	Liver	Liver
19	chr14:104353400-104355800	Weak transcription	Ovary	ovary
20	chr14:104353400-104356400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:104353400-104357800	Enhancers	Esophagus	oesophagus
22	chr14:104353400-104357800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr14:104353400-104358000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr14:104353600-104356200	Weak transcription	Fetal Lung	lung
25	chr14:104353600-104362800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:104353800-104355600	Weak transcription	HSMM	muscle
27	chr14:104353800-104355600	Weak transcription	HSMMtube	muscle
28	chr14:104353800-104355800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:104353800-104356000	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:104353800-104356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:104354000-104355800	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:104354600-104355200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:104354600-104355800	Enhancers	K562	blood
34	chr14:104354600-104356000	Enhancers	A549	lung
35	chr14:104354600-104356800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:104354600-104358800	Flanking Active TSS	HepG2	liver
37	chr14:104354800-104356200	Weak transcription	NHEK	skin
38	chr14:104354800-104356800	Enhancers	HMEC	breast
39	chr14:104355000-104355400	Weak transcription	Gastric	stomach
40	chr14:104355000-104355600	Enhancers	Colonic Mucosa	Colon
41	chr14:104355000-104355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:104355000-104355800	Weak transcription	Right Ventricle	heart
43	chr14:104355000-104359000	Enhancers	Spleen	Spleen

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