Variant report

Variant	rs2692679
Chromosome Location	chr3:133613514-133613515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1106735	0.89[ASN][1000 genomes]
rs1525885	0.83[ASN][1000 genomes]
rs1525887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525888	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917779	0.89[ASN][1000 genomes]
rs2030821	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140920	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140921	0.81[ASN][1000 genomes]
rs2370638	0.81[ASN][1000 genomes]
rs2692682	0.89[ASN][1000 genomes]
rs2692686	0.81[ASN][1000 genomes]
rs2692687	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692688	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2692689	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715612	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715616	0.81[ASN][1000 genomes]
rs2715617	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715619	0.89[ASN][1000 genomes]
rs2715620	0.89[ASN][1000 genomes]
rs2715630	0.87[ASN][1000 genomes]
rs57405758	0.89[ASN][1000 genomes]
rs7610245	0.81[ASN][1000 genomes]
rs7641134	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133596400-133613600	Weak transcription	Gastric	stomach
2	chr3:133609800-133613600	Enhancers	Spleen	Spleen
3	chr3:133610200-133614000	Enhancers	Fetal Heart	heart
4	chr3:133612600-133613600	Flanking Active TSS	Fetal Brain Female	brain
5	chr3:133612600-133614000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr3:133612600-133615200	Active TSS	Brain Anterior Caudate	brain
7	chr3:133612600-133615600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr3:133612800-133613600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr3:133612800-133613600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr3:133612800-133613800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr3:133612800-133613800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr3:133612800-133613800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr3:133612800-133613800	Flanking Active TSS	Fetal Brain Male	brain
14	chr3:133612800-133614200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr3:133612800-133615200	Active TSS	Brain Hippocampus Middle	brain
16	chr3:133613000-133613600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:133613000-133613600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:133613000-133613600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr3:133613000-133613600	Enhancers	Ovary	ovary
20	chr3:133613000-133613800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:133613000-133613800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:133613000-133614800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:133613000-133615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:133613000-133615400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr3:133613200-133613600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:133613200-133613600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:133613200-133613600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr3:133613200-133613600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr3:133613200-133613600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:133613200-133613600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr3:133613200-133613600	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr3:133613200-133613600	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr3:133613200-133613800	Flanking Active TSS	Left Ventricle	heart
34	chr3:133613200-133613800	Flanking Active TSS	Right Ventricle	heart
35	chr3:133613200-133614000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:133613200-133614000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:133613200-133614200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:133613200-133614400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr3:133613200-133614800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr3:133613200-133614800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
41	chr3:133613200-133615000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:133613200-133615200	Active TSS	Brain Angular Gyrus	brain
43	chr3:133613200-133615400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr3:133613200-133615400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr3:133613200-133615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:133613200-133615600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr3:133613400-133613600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:133613400-133613600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:133613400-133613600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:133613400-133613600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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