Variant report

Variant	rs11206625
Chromosome Location	chr1:56051105-56051106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10493196	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10749702	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11206629	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11206636	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11206637	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11206638	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11206639	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807964	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12026971	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12040862	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12041985	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12086546	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12128337	0.82[EUR][1000 genomes]
rs12132336	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12139752	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12142554	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12401977	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1392128	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1392129	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1392130	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1392131	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1392132	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1587432	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1604016	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17112402	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17417716	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56169646	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61776360	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61776375	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61776377	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6588566	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6669248	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6675850	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7513395	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7525515	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7544458	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7546899	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7555929	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7556008	0.92[AMR][1000 genomes];0.85[EUR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56042200-56052400	Weak transcription	Right Atrium	heart
3	chr1:56044400-56051400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:56047000-56051400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56049400-56051200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:56049600-56051200	Enhancers	Fetal Lung	lung
7	chr1:56049600-56051200	Enhancers	HSMM	muscle
8	chr1:56049600-56051400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:56049600-56051400	Enhancers	Fetal Stomach	stomach
10	chr1:56049600-56051600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:56049600-56051600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:56049600-56052200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:56049600-56052400	Enhancers	Brain Germinal Matrix	brain
14	chr1:56049600-56053200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:56049800-56051200	Enhancers	Fetal Heart	heart
16	chr1:56049800-56051200	Enhancers	NHDF-Ad	bronchial
17	chr1:56049800-56051400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:56049800-56051400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:56049800-56051400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:56049800-56051400	Enhancers	Psoas Muscle	Psoas
21	chr1:56050000-56051200	Enhancers	Brain Hippocampus Middle	brain
22	chr1:56050000-56051200	Weak transcription	Spleen	Spleen
23	chr1:56050000-56051400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:56050000-56052600	Enhancers	Colon Smooth Muscle	Colon
25	chr1:56050200-56051200	Enhancers	Brain Anterior Caudate	brain
26	chr1:56050200-56051200	Enhancers	Osteobl	bone
27	chr1:56050200-56051400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:56050200-56051400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:56050200-56051400	Enhancers	NHLF	lung
30	chr1:56050400-56051200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:56050400-56051200	Enhancers	Adipose Nuclei	Adipose
32	chr1:56050400-56051200	Enhancers	Brain Cingulate Gyrus	brain
33	chr1:56050400-56051400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:56050400-56051400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:56050400-56051400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:56050400-56051400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:56050400-56051600	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:56050600-56051400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:56050600-56051600	Enhancers	HMEC	breast
40	chr1:56050600-56052000	Weak transcription	Aorta	Aorta
41	chr1:56050600-56055400	Weak transcription	Ovary	ovary
42	chr1:56050800-56051200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:56050800-56052400	Weak transcription	Left Ventricle	heart
44	chr1:56050800-56052400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
46	chr1:56051000-56051400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:56051000-56052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:56051000-56052200	Weak transcription	HSMMtube	muscle
49	chr1:56051000-56055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:56051000-56055200	Weak transcription	Fetal Muscle Trunk	muscle

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