Variant report

Variant	rs2378617
Chromosome Location	chr1:223149884-223149885
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11487819	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2378618	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2378619	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609359	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609366	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2609371	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2789910	0.80[EUR][1000 genomes]
rs2789924	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2789929	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2789931	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2789933	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2789934	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2789937	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2789945	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2789953	0.86[EUR][1000 genomes]
rs2789954	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2789957	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2789958	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2789972	0.88[EUR][1000 genomes]
rs34188904	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34620158	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34673329	0.86[EUR][1000 genomes]
rs4317816	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4509582	0.87[EUR][1000 genomes]
rs4846783	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61837491	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67420224	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs728006	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs946506	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223144200-223165400	Weak transcription	Left Ventricle	heart
2	chr1:223147000-223150200	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:223147000-223150400	Enhancers	NHDF-Ad	bronchial
4	chr1:223147000-223150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:223147000-223175800	Weak transcription	Aorta	Aorta
6	chr1:223147200-223150400	Enhancers	Osteobl	bone
7	chr1:223147400-223150000	Enhancers	NH-A	brain
8	chr1:223147400-223150400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:223147600-223150400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:223147600-223150600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:223148200-223150400	Enhancers	NHLF	lung
12	chr1:223148200-223167800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:223148200-223168800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:223148200-223175600	Weak transcription	Fetal Stomach	stomach
15	chr1:223148600-223150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:223148600-223168600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:223149200-223160800	Weak transcription	Stomach Mucosa	stomach
18	chr1:223149200-223168600	Weak transcription	Right Ventricle	heart
19	chr1:223149400-223154200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:223149400-223154200	Weak transcription	Right Atrium	heart
21	chr1:223149400-223168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:223149400-223168600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:223149400-223168600	Weak transcription	Psoas Muscle	Psoas
24	chr1:223149600-223150000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:223149800-223150000	Enhancers	Brain Anterior Caudate	brain
26	chr1:223149800-223152800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:223149800-223152800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:223149800-223153000	Weak transcription	Fetal Lung	lung
29	chr1:223149800-223175600	Weak transcription	Ovary	ovary

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