Variant report

Variant	rs527976830
Chromosome Location	chr14:45465770-45465771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
2	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198718	Chromatin interaction
ENSG00000179454	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1801436	chr14:45441932-45476174	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv976833	chr14:45464242-45470996	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45436200-45486600	Weak transcription	Gastric	stomach
2	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
10	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
12	chr14:45449200-45466000	Weak transcription	Fetal Intestine Large	intestine
13	chr14:45449400-45482000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:45449800-45465800	Weak transcription	Fetal Stomach	stomach
15	chr14:45450000-45501800	Weak transcription	Lung	lung
16	chr14:45451400-45466000	Weak transcription	Aorta	Aorta
17	chr14:45452000-45482200	Weak transcription	NHDF-Ad	bronchial
18	chr14:45452600-45482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:45452800-45477800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:45453200-45466000	Weak transcription	Thymus	Thymus
21	chr14:45458000-45465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:45458000-45473200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:45458200-45465800	Weak transcription	Ovary	ovary
24	chr14:45458200-45469400	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:45458200-45469600	Weak transcription	Right Ventricle	heart
26	chr14:45458200-45469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:45458200-45470000	Weak transcription	Left Ventricle	heart
28	chr14:45458200-45475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:45458200-45478000	Weak transcription	Small Intestine	intestine
30	chr14:45458200-45487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:45458200-45487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:45458400-45468200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:45458400-45481600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:45458800-45465800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:45458800-45486600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:45458800-45503400	Weak transcription	HUVEC	blood vessel
39	chr14:45459400-45507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:45459600-45469800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:45459600-45477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:45460000-45466000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:45460800-45495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:45461200-45468400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:45461200-45501800	Weak transcription	HSMMtube	muscle
46	chr14:45461600-45469600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:45461800-45501400	Weak transcription	NHEK	skin
48	chr14:45462400-45506200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:45462800-45465800	Enhancers	A549	lung
50	chr14:45462800-45469400	Weak transcription	Fetal Brain Female	brain

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