Variant report

Variant	rs3766048
Chromosome Location	chr1:169120141-169120142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1040500	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1040501	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1320964	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861997	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35207260	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35471075	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35527028	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766033	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766034	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3766049	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820054	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169091200-169124600	Weak transcription	NHLF	lung
2	chr1:169091600-169120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:169091600-169120600	Weak transcription	Lung	lung
4	chr1:169091800-169137600	Weak transcription	Esophagus	oesophagus
5	chr1:169096600-169137400	Weak transcription	Fetal Stomach	stomach
6	chr1:169097000-169130000	Weak transcription	Ovary	ovary
7	chr1:169100800-169141400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:169101000-169137000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:169102400-169120600	Weak transcription	Left Ventricle	heart
10	chr1:169103400-169130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:169104800-169120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:169104800-169142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:169110400-169121800	Enhancers	Fetal Intestine Small	intestine
14	chr1:169112800-169120600	Weak transcription	Psoas Muscle	Psoas
15	chr1:169115000-169120600	Enhancers	HepG2	liver
16	chr1:169115000-169121200	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:169115000-169121800	Enhancers	Fetal Intestine Large	intestine
18	chr1:169115800-169130400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:169116200-169130200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:169116400-169126600	Weak transcription	Right Atrium	heart
21	chr1:169116400-169139400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:169117600-169120400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:169118000-169120200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:169118000-169137000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:169118200-169130400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:169118400-169120400	Enhancers	A549	lung
27	chr1:169118400-169126000	Weak transcription	Stomach Mucosa	stomach
28	chr1:169118400-169126400	Weak transcription	Small Intestine	intestine
29	chr1:169118600-169130000	Weak transcription	Liver	Liver
30	chr1:169119400-169121000	Enhancers	Rectal Mucosa Donor 31	rectum

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