Variant report

Variant	rs59415340
Chromosome Location	chr14:104348857-104348858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:104348759-104349133	SK-N-SH_RA	brain:	n/a	n/a
2	REST	chr14:104348810-104349133	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr14:104348786-104349187	SH-SY5Y	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:104348563..104350260-chr14:104352651..104354424,2	K562	blood:
2	chr14:104320208..104324271-chr14:104346660..104350133,4	MCF-7	breast:
3	chr14:104181031..104183384-chr14:104347626..104349344,2	MCF-7	breast:
4	chr14:104348661..104350567-chr14:104371429..104374100,2	MCF-7	breast:
5	chr14:104348645..104351214-chr14:104375295..104378157,2	MCF-7	breast:
6	chr14:104348563..104351528-chr14:104352651..104356401,4	K562	blood:
7	chr14:104319613..104324063-chr14:104346589..104349290,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258534	TF binding region
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10144862	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145537	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10873540	0.94[ASN][1000 genomes]
rs11160768	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588158	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12884940	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17101891	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28569774	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5018062	0.84[ASN][1000 genomes]
rs57639232	0.97[ASN][1000 genomes]
rs61995849	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61995855	0.95[ASN][1000 genomes]
rs7146090	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146238	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009053	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8009235	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8010954	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016348	0.83[EUR][1000 genomes]
rs8018649	0.94[AMR][1000 genomes];0.97[EUR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104344600-104349800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:104345600-104349800	Enhancers	Fetal Muscle Leg	muscle
3	chr14:104345800-104349600	Enhancers	Left Ventricle	heart
4	chr14:104345800-104349800	Enhancers	Esophagus	oesophagus
5	chr14:104345800-104349800	Enhancers	Right Ventricle	heart
6	chr14:104346000-104349200	Enhancers	Fetal Heart	heart
7	chr14:104346000-104349200	Enhancers	Spleen	Spleen
8	chr14:104346000-104349400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:104346000-104349800	Enhancers	Placenta	Placenta
10	chr14:104346000-104350000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr14:104346400-104349800	Enhancers	Lung	lung
12	chr14:104346400-104350000	Enhancers	Pancreas	Pancrea
13	chr14:104346600-104352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:104346800-104349800	Enhancers	Fetal Intestine Large	intestine
15	chr14:104346800-104349800	Enhancers	Gastric	stomach
16	chr14:104346800-104352600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:104347000-104349400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:104347000-104349800	Enhancers	Fetal Intestine Small	intestine
19	chr14:104347000-104349800	Enhancers	Ovary	ovary
20	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:104347200-104349200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:104347200-104349800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr14:104347200-104349800	Enhancers	Stomach Mucosa	stomach
24	chr14:104347200-104350000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:104347400-104349000	Enhancers	Adipose Nuclei	Adipose
27	chr14:104347400-104349000	Enhancers	Brain Anterior Caudate	brain
28	chr14:104347400-104349600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr14:104347400-104349600	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:104347400-104349800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr14:104347400-104350200	Enhancers	Fetal Stomach	stomach
32	chr14:104347400-104352200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:104347400-104352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:104347600-104349600	Enhancers	Colon Smooth Muscle	Colon
35	chr14:104347600-104349800	Enhancers	Liver	Liver
36	chr14:104347600-104349800	Enhancers	Colonic Mucosa	Colon
37	chr14:104347600-104350000	Enhancers	Fetal Lung	lung
38	chr14:104347800-104349200	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:104347800-104349800	Enhancers	Stomach Smooth Muscle	stomach
40	chr14:104347800-104353000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:104348000-104349200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr14:104348000-104351800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:104348200-104349000	Weak transcription	Brain Angular Gyrus	brain
44	chr14:104348200-104351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:104348400-104349000	Enhancers	Fetal Kidney	kidney
46	chr14:104348400-104349200	Weak transcription	Right Atrium	heart
47	chr14:104348400-104349800	Enhancers	HepG2	liver
48	chr14:104348400-104350600	Weak transcription	Brain Substantia Nigra	brain
49	chr14:104348400-104351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:104348400-104353000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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