Variant report

Variant	rs1780529
Chromosome Location	chr1:56047159-56047160
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11576160	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11583916	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12074881	0.91[EUR][1000 genomes]
rs12563404	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12564666	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12568344	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1499665	0.90[EUR][1000 genomes]
rs1514137	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1566399	0.81[EUR][1000 genomes]
rs17112456	0.90[EUR][1000 genomes]
rs17417688	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17451654	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1849679	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2173580	0.81[ASN][1000 genomes]
rs2221141	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2867947	0.81[EUR][1000 genomes]
rs36062316	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4927260	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61776372	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56037200-56047200	Weak transcription	Esophagus	oesophagus
2	chr1:56039200-56047200	Weak transcription	Psoas Muscle	Psoas
3	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:56042000-56047400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:56042200-56049600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:56042200-56052400	Weak transcription	Right Atrium	heart
7	chr1:56043000-56049600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:56043000-56049800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:56043000-56050200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:56043000-56050400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:56044400-56051400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:56044600-56048400	Enhancers	HSMM	muscle
13	chr1:56045000-56047600	Enhancers	Osteobl	bone
14	chr1:56045000-56048200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:56045000-56048400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:56045200-56048200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:56045200-56048400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:56045200-56050000	Weak transcription	Ovary	ovary
19	chr1:56045400-56047200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:56045400-56048600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:56045600-56049600	Weak transcription	Fetal Stomach	stomach
22	chr1:56045800-56048400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:56046000-56048000	Enhancers	NHEK	skin
24	chr1:56046000-56048200	Enhancers	NHLF	lung
25	chr1:56046000-56048400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:56046200-56047400	Enhancers	NH-A	brain
27	chr1:56046400-56048000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:56046400-56048200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:56046600-56047200	Weak transcription	Aorta	Aorta
30	chr1:56046600-56048600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:56046800-56047200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:56047000-56047200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:56047000-56048200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:56047000-56048400	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:56047000-56048400	Enhancers	HMEC	breast
36	chr1:56047000-56048600	Enhancers	NHDF-Ad	bronchial
37	chr1:56047000-56049600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:56047000-56049600	Weak transcription	Fetal Lung	lung
39	chr1:56047000-56050000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:56047000-56050000	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:56047000-56050000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:56047000-56050200	Weak transcription	Brain Anterior Caudate	brain
43	chr1:56047000-56050400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:56047000-56050400	Weak transcription	Brain Substantia Nigra	brain
45	chr1:56047000-56050400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:56047000-56050400	Weak transcription	Hela-S3	cervix
47	chr1:56047000-56051400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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