Variant report

Variant	rs142912600
Chromosome Location	chr5:114504592-114504593
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114504001..114505595-chr5:114509274..114511194,2	K562	blood:
2	chr5:114504108..114507715-chr5:114515140..114518807,4	MCF-7	breast:
3	chr5:114504319..114509129-chr5:114509356..114517256,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152503	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv462399	chr5:114445023-114526010	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv599477	chr5:114445023-114526010	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3336600	chr5:114504203-114506901	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114501400-114504800	Weak transcription	Gastric	stomach
2	chr5:114502800-114504800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:114503000-114504600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:114503000-114504600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:114503000-114504800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:114503400-114504600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:114504000-114504800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:114504000-114505000	Active TSS	Fetal Brain Female	brain
9	chr5:114504000-114505400	Active TSS	Fetal Brain Male	brain
10	chr5:114504000-114506200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:114504200-114504600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr5:114504200-114504600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr5:114504200-114504600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:114504200-114504600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:114504200-114504600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr5:114504200-114504600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr5:114504200-114504600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
18	chr5:114504200-114504600	Bivalent Enhancer	Fetal Heart	heart
19	chr5:114504200-114504800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:114504200-114504800	Active TSS	Brain Germinal Matrix	brain
21	chr5:114504200-114504800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:114504200-114504800	Flanking Active TSS	Hela-S3	cervix
23	chr5:114504200-114505000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr5:114504200-114505200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:114504200-114505200	Active TSS	Right Atrium	heart
26	chr5:114504200-114506000	Active TSS	NH-A	brain
27	chr5:114504200-114506200	Active TSS	Brain Cingulate Gyrus	brain
28	chr5:114504200-114506600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:114504200-114506600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:114504200-114506600	Active TSS	Brain Angular Gyrus	brain
31	chr5:114504200-114506600	Active TSS	HSMMtube	muscle
32	chr5:114504200-114506800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:114504200-114507000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:114504200-114507400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:114504400-114504600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr5:114504400-114504600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:114504400-114504600	Bivalent Enhancer	Primary T cells from cord blood	blood
38	chr5:114504400-114504600	Enhancers	Adipose Nuclei	Adipose
39	chr5:114504400-114504600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:114504400-114504800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr5:114504400-114504800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr5:114504400-114504800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr5:114504400-114504800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:114504400-114504800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr5:114504400-114504800	Enhancers	Brain Substantia Nigra	brain
46	chr5:114504400-114504800	Active TSS	Colonic Mucosa	Colon
47	chr5:114504400-114504800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr5:114504400-114504800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr5:114504400-114504800	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr5:114504400-114504800	Flanking Bivalent TSS/Enh	NHEK	skin

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