Variant report

Variant	rs542452578
Chromosome Location	chr18:13137111-13137112
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13130413..13132086-chr18:13135033..13137817,2	MCF-7	breast:

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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3388823	chr18:13135977-13138825	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13135800-13137200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
2	chr18:13135800-13138600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr18:13135800-13138800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:13136000-13137200	Active TSS	Brain Hippocampus Middle	brain
5	chr18:13136200-13137200	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr18:13136200-13137400	Transcr. at gene 5' and 3'	Thymus	Thymus
7	chr18:13136200-13137600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr18:13136200-13137800	Flanking Active TSS	Colonic Mucosa	Colon
9	chr18:13136200-13138200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr18:13136200-13138400	Active TSS	Liver	Liver
11	chr18:13136200-13138800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr18:13136400-13137200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr18:13136400-13137400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:13136400-13137400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr18:13136400-13137400	Weak transcription	Fetal Heart	heart
16	chr18:13136400-13137400	Active TSS	Osteobl	bone
17	chr18:13136400-13137600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:13136400-13137600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr18:13136400-13137600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr18:13136400-13137600	Active TSS	Primary T cells from cord blood	blood
21	chr18:13136400-13137600	Active TSS	Esophagus	oesophagus
22	chr18:13136400-13137800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr18:13136400-13137800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:13136400-13137800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:13136400-13137800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr18:13136400-13137800	Active TSS	Fetal Brain Female	brain
27	chr18:13136400-13138000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr18:13136400-13138000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr18:13136400-13138000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:13136400-13138000	Active TSS	Brain Cingulate Gyrus	brain
31	chr18:13136400-13138000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr18:13136400-13138000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr18:13136400-13138000	Active TSS	Right Atrium	heart
34	chr18:13136400-13138000	Active TSS	NHDF-Ad	bronchial
35	chr18:13136400-13138200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
36	chr18:13136400-13138400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:13136400-13138400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr18:13136400-13138400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:13136400-13138400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr18:13136400-13138400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr18:13136400-13138400	Active TSS	Ovary	ovary
42	chr18:13136400-13138400	Active TSS	Rectal Smooth Muscle	rectum
43	chr18:13136400-13138600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:13136400-13138600	Active TSS	Brain Anterior Caudate	brain
45	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:13136600-13137400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
47	chr18:13136600-13137400	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr18:13136600-13137400	Active TSS	Stomach Mucosa	stomach
49	chr18:13136600-13137400	Active TSS	HSMM	muscle
50	chr18:13136600-13137600	Active TSS	H9 Cell Line	embryonic stem cell

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