Variant report

Variant	rs550700918
Chromosome Location	chr14:65230431-65230432
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
2	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
3	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
4	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
5	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
6	chr14:64970276..64971997-chr14:65229092..65230792,2	K562	blood:
7	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
8	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:
9	chr14:64969302..64971888-chr14:65227488..65230502,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:65221400-65231600	Enhancers	Spleen	Spleen
7	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
9	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:65222200-65231600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:65222600-65231600	Enhancers	Fetal Heart	heart
12	chr14:65223600-65230600	Enhancers	Right Ventricle	heart
13	chr14:65223600-65231600	Enhancers	Ovary	ovary
14	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
15	chr14:65224000-65231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:65225200-65230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:65225200-65231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:65227400-65231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:65227400-65231600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:65227600-65231600	Enhancers	Fetal Lung	lung
21	chr14:65227600-65231600	Enhancers	Fetal Thymus	thymus
22	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:65227800-65231600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr14:65228000-65231000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:65228200-65231600	Enhancers	HUVEC	blood vessel
26	chr14:65228200-65231800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:65228400-65231000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:65228400-65231200	Enhancers	NHDF-Ad	bronchial
29	chr14:65228400-65231600	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
31	chr14:65228800-65230600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr14:65228800-65231600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr14:65228800-65231600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:65228800-65231600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:65229200-65230800	Weak transcription	Liver	Liver
37	chr14:65229200-65231200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:65229200-65231400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:65229200-65231600	Enhancers	NH-A	brain
40	chr14:65229200-65233600	Enhancers	HMEC	breast
41	chr14:65229400-65230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:65229400-65231000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:65229400-65231000	Enhancers	Fetal Kidney	kidney
44	chr14:65229400-65231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:65229400-65231200	Enhancers	Brain Germinal Matrix	brain
46	chr14:65229400-65231400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:65229400-65232200	Enhancers	Placenta	Placenta
48	chr14:65229600-65230600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:65229600-65230600	Weak transcription	Adipose Nuclei	Adipose
50	chr14:65229600-65230600	Weak transcription	Colonic Mucosa	Colon

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