Variant report

Variant	rs552574627
Chromosome Location	chr14:45448857-45448858
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45447939..45449811-chr14:45461591..45463970,2	MCF-7	breast:
2	chr14:45442937..45446932-chr14:45447950..45450960,3	MCF-7	breast:
3	chr14:45431180..45433416-chr14:45447895..45450049,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
2	chr14:45436200-45486600	Weak transcription	Gastric	stomach
3	chr14:45436800-45461400	Weak transcription	K562	blood
4	chr14:45437000-45449000	Weak transcription	Fetal Stomach	stomach
5	chr14:45437000-45451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:45437200-45449400	Weak transcription	Liver	Liver
13	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
16	chr14:45438200-45449000	Weak transcription	Adipose Nuclei	Adipose
17	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:45438600-45451800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:45438800-45449600	Weak transcription	Left Ventricle	heart
20	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:45439400-45449000	Weak transcription	Brain Angular Gyrus	brain
22	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:45441400-45449200	Weak transcription	Fetal Lung	lung
25	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
26	chr14:45442200-45458000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:45442800-45457800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:45444000-45451400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:45444400-45452000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:45444400-45452400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:45444600-45451800	Weak transcription	GM12878-XiMat	blood
32	chr14:45447600-45449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:45448400-45449200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:45448400-45449200	Strong transcription	Fetal Intestine Large	intestine
35	chr14:45448400-45449800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:45448400-45450000	Enhancers	Psoas Muscle	Psoas
37	chr14:45448400-45450000	Enhancers	Hela-S3	cervix
38	chr14:45448600-45449200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:45448600-45449200	Enhancers	Stomach Mucosa	stomach
40	chr14:45448600-45449400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:45448600-45449400	Enhancers	Brain Anterior Caudate	brain
42	chr14:45448600-45449400	Genic enhancers	Fetal Brain Female	brain
43	chr14:45448600-45449600	Enhancers	Rectal Smooth Muscle	rectum
44	chr14:45448600-45450000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr14:45448600-45450800	Enhancers	Fetal Heart	heart
46	chr14:45448600-45451000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:45448600-45455600	Weak transcription	Fetal Intestine Small	intestine
48	chr14:45448800-45449200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr14:45448800-45449400	Enhancers	Fetal Muscle Leg	muscle
50	chr14:45448800-45449600	Enhancers	Primary T helper cells PMA-I stimulated	--

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