Variant report

Variant	rs537548507
Chromosome Location	chr14:65193893-65193894
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	MAZ	chr14:65193155-65194019	IMR90	lung:	n/a	chr14:65193386-65193396 chr14:65193463-65193472
2	FOSL1	chr14:65193005-65193916	HCT-116	colon:	n/a	chr14:65193464-65193472 chr14:65193462-65193474

No.	Distal block	Cell Line	Cell type
1	chr14:65182060..65184778-chr14:65193626..65195204,2	MCF-7	breast:
2	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
3	chr14:65192632..65194965-chr14:65195428..65197963,2	MCF-7	breast:
4	chr14:65193061..65195371-chr14:65207484..65209223,2	MCF-7	breast:
5	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
6	chr14:65192502..65194918-chr14:65380878..65383744,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 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	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
5	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
6	chr14:65183400-65194200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
8	chr14:65186400-65194400	Enhancers	Fetal Intestine Large	intestine
9	chr14:65186800-65194200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:65187000-65197400	Enhancers	Primary T cells from cord blood	blood
11	chr14:65187400-65195200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr14:65187600-65194000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:65188200-65194000	Enhancers	Colonic Mucosa	Colon
14	chr14:65188800-65195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:65189800-65194400	Weak transcription	Aorta	Aorta
16	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:65190400-65194000	Enhancers	Duodenum Mucosa	Duodenum
18	chr14:65190400-65194200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr14:65190600-65194000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:65190600-65194000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:65190800-65194000	Enhancers	Small Intestine	intestine
22	chr14:65190800-65194400	Enhancers	Brain Hippocampus Middle	brain
23	chr14:65191000-65194000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr14:65191000-65194400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:65191000-65194600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:65191400-65194000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:65191400-65194200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr14:65191400-65194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:65191400-65197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:65191600-65194000	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:65191600-65194200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:65191600-65194400	Weak transcription	Lung	lung
33	chr14:65191600-65195000	Weak transcription	Fetal Kidney	kidney
34	chr14:65191600-65196200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:65191600-65198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:65191800-65194000	Enhancers	Stomach Smooth Muscle	stomach
37	chr14:65192000-65194200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:65192200-65194000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:65192200-65194000	Enhancers	NH-A	brain
40	chr14:65192200-65194400	Weak transcription	Primary B cells from cord blood	blood
41	chr14:65192400-65194000	Enhancers	Liver	Liver
42	chr14:65192400-65194400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:65192400-65194400	Weak transcription	Adipose Nuclei	Adipose
44	chr14:65192400-65194400	Weak transcription	Brain Germinal Matrix	brain
45	chr14:65192400-65194600	Weak transcription	Fetal Lung	lung
46	chr14:65192400-65194600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr14:65192400-65197600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:65192400-65210400	Weak transcription	Osteobl	bone
49	chr14:65192600-65194000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr14:65192600-65194200	Weak transcription	Ovary	ovary

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