Variant report

Variant	rs1985465
Chromosome Location	chr14:65189974-65189975
allele	C/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	MYC	chr14:65189635-65189979	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr14:65189574-65189999	MCF10A-Er-Src	breast:	n/a	chr14:65189758-65189770 chr14:65189754-65189766 chr14:65189914-65189925
4	STAT3	chr14:65189489-65190054	MCF10A-Er-Src	breast:	n/a	chr14:65189758-65189770 chr14:65189754-65189766 chr14:65189914-65189925
5	STAT3	chr14:65189504-65190034	MCF10A-Er-Src	breast:	n/a	chr14:65189758-65189770 chr14:65189754-65189766 chr14:65189914-65189925
6	MYC	chr14:65189617-65190037	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	chr14:65116281..65118430-chr14:65188317..65189997,2	MCF-7	breast:
3	chr14:65185854..65191054-chr14:65221241..65225762,8	MCF-7	breast:
4	chr14:65182036..65184800-chr14:65187210..65189994,3	MCF-7	breast:
5	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
6	chr14:64969164..64972149-chr14:65189834..65193113,3	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126803	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000070182	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17179984	1.00[JPT][hapmap]
rs17180090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17767188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17767206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985466	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1998120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs229603	0.84[ASN][1000 genomes]
rs229620	0.88[ASN][1000 genomes]
rs229624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs229625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs229626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs229644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs229646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs229650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs229651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs229655	0.88[ASN][1000 genomes]
rs229659	0.84[ASN][1000 genomes]
rs229660	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs229662	0.83[ASN][1000 genomes]
rs229663	0.83[ASN][1000 genomes]
rs229664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs41301473	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41307086	0.85[EUR][1000 genomes]
rs58789159	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73273513	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73273517	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73273524	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73273534	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73273536	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73273546	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73273549	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs754435	0.83[ASN][1000 genomes]
rs872296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[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	chr14:65187000-65190600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr14:65187000-65190600	Enhancers	Brain Substantia Nigra	brain
36	chr14:65187000-65192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:65187000-65197400	Enhancers	Primary T cells from cord blood	blood
38	chr14:65187200-65190400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:65187200-65193400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:65187400-65190000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:65187400-65195200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr14:65187600-65190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:65187600-65190000	Enhancers	Left Ventricle	heart
44	chr14:65187600-65193200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr14:65187600-65194000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:65188000-65190000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr14:65188000-65190800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:65188000-65192400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:65188000-65192800	Enhancers	Fetal Muscle Trunk	muscle
50	chr14:65188200-65190400	Weak transcription	Fetal Kidney	kidney

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