Variant report

Variant	rs11952079
Chromosome Location	chr5:146817506-146817507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1030664	0.87[AFR][1000 genomes]
rs11950421	0.87[AFR][1000 genomes]
rs11955404	0.87[AFR][1000 genomes]
rs11956835	0.92[YRI][hapmap]
rs11958380	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11960053	0.89[AFR][1000 genomes]
rs13340366	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17106746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17106775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59676350	1.00[AMR][1000 genomes]
rs6580475	1.00[AMR][1000 genomes]
rs6885214	1.00[AMR][1000 genomes]
rs6896608	1.00[AMR][1000 genomes]
rs7730192	0.87[AFR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146799000-146818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:146805800-146819200	Enhancers	Colon Smooth Muscle	Colon
4	chr5:146808200-146818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:146809400-146819200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:146810000-146823400	Weak transcription	Small Intestine	intestine
7	chr5:146810800-146817600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:146810800-146819400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:146810800-146822600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:146811400-146818800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:146811600-146818800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:146812200-146818400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:146812200-146818400	Weak transcription	Aorta	Aorta
14	chr5:146812200-146825600	Weak transcription	Placenta	Placenta
15	chr5:146812400-146824400	Weak transcription	Fetal Stomach	stomach
16	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
17	chr5:146813200-146828200	Weak transcription	NHLF	lung
18	chr5:146813600-146822600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:146813800-146819600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:146814200-146826400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:146814400-146818200	Enhancers	Fetal Brain Female	brain
22	chr5:146815000-146818400	Enhancers	Ovary	ovary
23	chr5:146815200-146822000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:146815400-146817600	Enhancers	Brain Anterior Caudate	brain
25	chr5:146815400-146817800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:146815400-146819400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:146815600-146817600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:146815600-146818800	Enhancers	Fetal Brain Male	brain
29	chr5:146815800-146817800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:146815800-146818000	Weak transcription	Spleen	Spleen
31	chr5:146815800-146819000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:146816000-146817600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:146816000-146818800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:146816200-146817800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:146816200-146817800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:146816200-146817800	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr5:146816200-146817800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:146816200-146819200	Enhancers	NH-A	brain
39	chr5:146816200-146819400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:146816400-146817600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:146816400-146817600	Enhancers	HSMMtube	muscle
42	chr5:146816600-146817600	Enhancers	Osteobl	bone
43	chr5:146816600-146820600	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:146816800-146817800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:146816800-146818200	Enhancers	Fetal Heart	heart
46	chr5:146816800-146820200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:146816800-146823400	Weak transcription	Left Ventricle	heart
48	chr5:146816800-146826200	Weak transcription	Lung	lung
49	chr5:146817200-146818000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:146817200-146818400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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