Variant report

Variant	rs1795171
Chromosome Location	chr3:112798726-112798727
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1620497	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797611	1.00[EUR][1000 genomes]
rs2613942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613959	1.00[EUR][1000 genomes]
rs2633498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58310808	1.00[AMR][1000 genomes]
rs59096077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59899693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60040013	1.00[EUR][1000 genomes]
rs61438638	0.85[AMR][1000 genomes]
rs6795832	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853712	1.00[EUR][1000 genomes]
rs73853719	1.00[EUR][1000 genomes]
rs73854001	0.85[AMR][1000 genomes]
rs73857303	0.85[AMR][1000 genomes]
rs73857304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73857305	0.85[AMR][1000 genomes]
rs73857307	0.85[AMR][1000 genomes]
rs9784314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9784379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9784380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9784381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv3951	chr3:112759554-112800236	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112784800-112824000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:112792200-112807000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:112798000-112799200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:112798000-112799200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:112798200-112798800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:112798200-112798800	Active TSS	Brain Angular Gyrus	brain
7	chr3:112798200-112798800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr3:112798200-112798800	Active TSS	Right Atrium	heart
9	chr3:112798200-112799000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:112798200-112799000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:112798200-112799000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr3:112798200-112799000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:112798200-112799000	Active TSS	Brain Hippocampus Middle	brain
14	chr3:112798200-112799000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:112798200-112799000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:112798200-112799200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:112798200-112799200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:112798200-112799200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:112798200-112799200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:112798200-112799200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:112798200-112799200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:112798200-112799200	Active TSS	Stomach Smooth Muscle	stomach
23	chr3:112798200-112799200	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:112798400-112798800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:112798400-112798800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:112798400-112798800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:112798400-112798800	Active TSS	Fetal Lung	lung
28	chr3:112798400-112799000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:112798400-112799000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:112798400-112799000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr3:112798400-112799000	Flanking Active TSS	Fetal Stomach	stomach
32	chr3:112798400-112799000	Enhancers	A549	lung
33	chr3:112798400-112799000	Enhancers	HSMMtube	muscle
34	chr3:112798400-112799000	Enhancers	NHEK	skin
35	chr3:112798400-112799000	Flanking Active TSS	Osteobl	bone
36	chr3:112798600-112798800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr3:112798600-112798800	Enhancers	Psoas Muscle	Psoas
38	chr3:112798600-112799000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:112798600-112799000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:112798600-112799000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:112798600-112799000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr3:112798600-112799000	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr3:112798600-112799000	Active TSS	Brain Cingulate Gyrus	brain
44	chr3:112798600-112799000	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr3:112798600-112799000	Active TSS	Duodenum Mucosa	Duodenum
46	chr3:112798600-112799000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr3:112798600-112799000	Flanking Active TSS	NH-A	brain
48	chr3:112798600-112799000	Enhancers	NHLF	lung
49	chr3:112798600-112799200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:112798600-112799200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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