Variant report

Variant	rs2078128
Chromosome Location	chr5:146832502-146832503
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12108687	1.00[AMR][1000 genomes]
rs12109084	1.00[AMR][1000 genomes]
rs12109099	1.00[AMR][1000 genomes]
rs6897295	1.00[AMR][1000 genomes]
rs73260265	1.00[AMR][1000 genomes]
rs73264281	1.00[AMR][1000 genomes]
rs73266215	1.00[AMR][1000 genomes]
rs73266217	1.00[AMR][1000 genomes]
rs73794766	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island 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	chr5:146830400-146834200	Active TSS	Fetal Brain Male	brain
2	chr5:146830600-146834000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr5:146830800-146832600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:146830800-146834200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:146831000-146832800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:146831000-146834400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:146831000-146835000	Active TSS	Aorta	Aorta
8	chr5:146831200-146834000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr5:146831200-146834200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:146831200-146834200	Active TSS	Ovary	ovary
11	chr5:146831200-146834200	Active TSS	Rectal Smooth Muscle	rectum
12	chr5:146831200-146835000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:146831200-146835400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:146831400-146834000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr5:146831400-146834000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:146831400-146834200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:146831600-146832600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:146831600-146832600	Active TSS	Brain Cingulate Gyrus	brain
19	chr5:146831600-146832600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr5:146831600-146832800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:146831600-146832800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr5:146831600-146832800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:146831600-146833000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr5:146831600-146833000	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr5:146831600-146833200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr5:146831600-146833200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr5:146831600-146834000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr5:146831600-146834000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr5:146831600-146834200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:146831600-146834200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:146831600-146834200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:146831800-146832800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr5:146831800-146832800	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr5:146831800-146832800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr5:146831800-146833000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr5:146831800-146833200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:146831800-146833200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr5:146831800-146833400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:146831800-146834000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:146831800-146834000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:146831800-146834000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:146831800-146834200	Active TSS	Colon Smooth Muscle	Colon
43	chr5:146831800-146834800	Active TSS	Stomach Smooth Muscle	stomach
44	chr5:146831800-146835000	Active TSS	Right Atrium	heart
45	chr5:146831800-146835000	Active TSS	NHLF	lung
46	chr5:146832000-146832600	Flanking Active TSS	Esophagus	oesophagus
47	chr5:146832000-146832800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:146832000-146832800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr5:146832000-146832800	Bivalent Enhancer	Liver	Liver
50	chr5:146832000-146832800	Bivalent/Poised TSS	Fetal Kidney	kidney

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