Variant report

Variant	rs73273513
Chromosome Location	chr14:65189619-65189620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr14:65189564-65190035	MCF10A-Er-Src	breast:	n/a	chr14:65189758-65189770 chr14:65189754-65189766 chr14:65189914-65189925
2	STAT3	chr14:65189574-65189999	MCF10A-Er-Src	breast:	n/a	chr14:65189758-65189770 chr14:65189754-65189766 chr14:65189914-65189925
3	STAT3	chr14:65189489-65190054	MCF10A-Er-Src	breast:	n/a	chr14:65189758-65189770 chr14:65189754-65189766 chr14:65189914-65189925
4	STAT3	chr14:65189504-65190034	MCF10A-Er-Src	breast:	n/a	chr14:65189758-65189770 chr14:65189754-65189766 chr14:65189914-65189925
5	FOS	chr14:65189612-65189962	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr14:65189617-65190037	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:65189393-65189848	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:65189597-65189967	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65005088..65007392-chr14:65188450..65190752,3	MCF-7	breast:
2	chr14:65005225..65007322-chr14:65187172..65189732,2	MCF-7	breast:
3	chr14:65116281..65118430-chr14:65188317..65189997,2	MCF-7	breast:
4	chr14:65185854..65191054-chr14:65221241..65225762,8	MCF-7	breast:
5	chr14:65182036..65184800-chr14:65187210..65189994,3	MCF-7	breast:
6	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126822	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000126803	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17179970	0.83[ASN][1000 genomes]
rs17179984	0.83[ASN][1000 genomes]
rs17180090	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17767188	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17767206	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1985465	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1985466	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1998120	0.96[ASN][1000 genomes]
rs229624	0.83[ASN][1000 genomes]
rs229646	0.84[ASN][1000 genomes]
rs229659	0.88[ASN][1000 genomes]
rs229660	0.88[ASN][1000 genomes]
rs229662	0.87[ASN][1000 genomes]
rs229663	0.87[ASN][1000 genomes]
rs229664	0.87[ASN][1000 genomes]
rs41301473	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41307086	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58789159	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273517	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73273524	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273534	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273536	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273546	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73273549	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs754435	0.87[ASN][1000 genomes]
rs872296	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:65181800-65190600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:65181800-65192400	Enhancers	Adipose Nuclei	Adipose
5	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:65182000-65190800	Enhancers	Stomach Mucosa	stomach
7	chr14:65182200-65191600	Enhancers	Spleen	Spleen
8	chr14:65182800-65193800	Enhancers	Esophagus	oesophagus
9	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
10	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
11	chr14:65183400-65190000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr14:65183400-65194200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:65183600-65190000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:65183600-65190000	Enhancers	Duodenum Mucosa	Duodenum
15	chr14:65183600-65193800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:65183800-65191800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:65183800-65193400	Enhancers	Right Atrium	heart
18	chr14:65183800-65193800	Enhancers	Pancreas	Pancrea
19	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
20	chr14:65184200-65193800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:65184600-65193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:65185400-65190000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:65185400-65190000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:65185800-65193600	Enhancers	Brain Angular Gyrus	brain
25	chr14:65186200-65190000	Enhancers	Lung	lung
26	chr14:65186200-65192400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:65186400-65191000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr14:65186400-65192400	Enhancers	Osteobl	bone
29	chr14:65186400-65194400	Enhancers	Fetal Intestine Large	intestine
30	chr14:65186600-65191200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:65186800-65190000	Enhancers	Gastric	stomach
32	chr14:65186800-65191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:65186800-65194200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:65187000-65189800	Enhancers	Right Ventricle	heart
35	chr14:65187000-65190600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr14:65187000-65190600	Enhancers	Brain Substantia Nigra	brain
37	chr14:65187000-65192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:65187000-65197400	Enhancers	Primary T cells from cord blood	blood
39	chr14:65187200-65190400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:65187200-65193400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:65187400-65190000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:65187400-65195200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr14:65187600-65189800	Enhancers	Fetal Heart	heart
44	chr14:65187600-65190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:65187600-65190000	Enhancers	Left Ventricle	heart
46	chr14:65187600-65193200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:65187600-65194000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:65188000-65190000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr14:65188000-65190800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr14:65188000-65192400	Enhancers	Rectal Mucosa Donor 31	rectum

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