Variant report

Variant	rs2803164
Chromosome Location	chr1:77913769-77913770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2351033	1.00[AMR][1000 genomes]
rs2647507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2647523	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803141	1.00[AMR][1000 genomes]
rs2803150	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803151	0.83[AFR][1000 genomes]
rs2803161	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803163	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1848735	chr1:77885282-77918347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv871605	chr1:77889505-77918347	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77907000-77916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:77907400-77914000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:77907800-77914000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:77907800-77927000	Weak transcription	HSMMtube	muscle
6	chr1:77908400-77915600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:77908400-77916200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:77911000-77925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:77911200-77934000	Weak transcription	HSMM	muscle
10	chr1:77912400-77913800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:77912400-77913800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:77912600-77913800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:77912600-77913800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:77912800-77914400	Enhancers	Stomach Mucosa	stomach
15	chr1:77912800-77925000	Weak transcription	NHDF-Ad	bronchial
16	chr1:77913000-77914000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:77913000-77914000	Enhancers	HepG2	liver
18	chr1:77913000-77934400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:77913200-77930000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:77913200-77937000	Weak transcription	Primary T cells from cord blood	blood
21	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:77913400-77929400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:77913600-77914000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:77913600-77914000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:77913600-77914000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:77913600-77914000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:77913600-77914000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:77913600-77914000	Enhancers	Pancreas	Pancrea
29	chr1:77913600-77914200	Enhancers	A549	lung
30	chr1:77913600-77914400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:77913600-77915000	Enhancers	Colonic Mucosa	Colon

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