Variant report

Variant	rs2794398
Chromosome Location	chr1:225886130-225886131
allele	A/G
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]
rs2246539	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2615063	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2615066	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2639710	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2794393	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2794394	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35303986	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61850656	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6701838	0.84[AMR][1000 genomes]
rs7512304	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7554842	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7555374	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225865600-225888000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:225875200-225898600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:225879400-225887000	Weak transcription	NHLF	lung
4	chr1:225880800-225887800	Weak transcription	Spleen	Spleen
5	chr1:225881000-225887200	Weak transcription	Right Ventricle	heart
6	chr1:225882200-225887000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:225882200-225889600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:225882400-225887000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:225882400-225887000	Weak transcription	Hela-S3	cervix
10	chr1:225882400-225887200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:225882400-225887200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:225882400-225908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:225882800-225887000	Weak transcription	Stomach Mucosa	stomach
14	chr1:225883000-225887000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:225883000-225887000	Weak transcription	HUVEC	blood vessel
16	chr1:225883000-225887200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:225883400-225887200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:225883600-225887000	Weak transcription	HMEC	breast
19	chr1:225883600-225887000	Weak transcription	NHEK	skin
20	chr1:225883600-225887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:225884000-225887000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:225884000-225887000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:225884000-225887000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:225884000-225887000	Weak transcription	Fetal Heart	heart
25	chr1:225884000-225887000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:225884000-225887000	Weak transcription	NHDF-Ad	bronchial
27	chr1:225884000-225887200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:225884000-225887800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:225884200-225886600	Weak transcription	Aorta	Aorta
30	chr1:225884200-225886800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:225884200-225887200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:225884200-225887200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:225884400-225886800	Weak transcription	Osteobl	bone
34	chr1:225885200-225887000	Weak transcription	HSMMtube	muscle
35	chr1:225885400-225886400	Weak transcription	Left Ventricle	heart
36	chr1:225885400-225886400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:225885400-225886600	Weak transcription	Psoas Muscle	Psoas
38	chr1:225885400-225887200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:225885400-225887200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:225885600-225886600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:225885600-225886800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:225885600-225887000	Weak transcription	Fetal Stomach	stomach
43	chr1:225885600-225887000	Weak transcription	A549	lung
44	chr1:225885600-225887000	Weak transcription	HSMM	muscle
45	chr1:225885600-225887200	Weak transcription	Fetal Lung	lung
46	chr1:225885600-225887200	Weak transcription	Right Atrium	heart
47	chr1:225885600-225887600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:225885800-225886200	Weak transcription	HepG2	liver
49	chr1:225885800-225886600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:225885800-225886800	Weak transcription	Muscle Satellite Cultured Cells	--

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