Variant report

Variant	rs1628854
Chromosome Location	chr1:213452267-213452268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213450406..213452602-chr1:213452688..213454231,2	K562	blood:
2	chr1:213451966..213454534-chr1:213457194..213460102,2	K562	blood:
3	chr1:213447316..213454346-chr1:213454663..213460102,7	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11120089	0.82[EUR][1000 genomes]
rs1187777	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1187788	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1187802	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1187806	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12065249	0.82[EUR][1000 genomes]
rs12082134	0.93[EUR][1000 genomes]
rs17742003	0.82[EUR][1000 genomes]
rs2654910	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2817985	0.82[CEU][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs2841422	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2841433	0.93[EUR][1000 genomes]
rs41307658	0.93[EUR][1000 genomes]
rs4655415	0.93[EUR][1000 genomes]
rs57140665	0.82[EUR][1000 genomes]
rs57376645	0.82[EUR][1000 genomes]
rs57670103	0.89[EUR][1000 genomes]
rs57845296	0.82[EUR][1000 genomes]
rs58865439	0.82[EUR][1000 genomes]
rs60194877	0.82[EUR][1000 genomes]
rs60727621	0.93[EUR][1000 genomes]
rs61832461	0.93[EUR][1000 genomes]
rs61832463	0.93[EUR][1000 genomes]
rs61832465	0.85[EUR][1000 genomes]
rs61832467	0.93[EUR][1000 genomes]
rs61832468	0.93[EUR][1000 genomes]
rs61832475	0.93[EUR][1000 genomes]
rs61832476	0.93[EUR][1000 genomes]
rs61832498	0.93[EUR][1000 genomes]
rs61832499	0.93[EUR][1000 genomes]
rs61832501	0.93[EUR][1000 genomes]
rs61832502	0.89[EUR][1000 genomes]
rs61832503	0.93[EUR][1000 genomes]
rs61832508	0.89[EUR][1000 genomes]
rs61832509	0.89[EUR][1000 genomes]
rs61832510	0.89[EUR][1000 genomes]
rs61832511	0.89[EUR][1000 genomes]
rs61832513	0.93[EUR][1000 genomes]
rs61832528	0.93[EUR][1000 genomes]
rs61832529	0.89[EUR][1000 genomes]
rs61834076	0.82[EUR][1000 genomes]
rs61834080	0.82[EUR][1000 genomes]
rs61834083	0.82[EUR][1000 genomes]
rs61834084	0.82[EUR][1000 genomes]
rs61834086	0.82[EUR][1000 genomes]
rs61834088	0.82[EUR][1000 genomes]
rs61834089	0.82[EUR][1000 genomes]
rs61834091	0.82[EUR][1000 genomes]
rs61834093	0.82[EUR][1000 genomes]
rs61834094	0.82[EUR][1000 genomes]
rs61834096	0.82[EUR][1000 genomes]
rs61834099	0.82[EUR][1000 genomes]
rs61834103	0.82[EUR][1000 genomes]
rs61834104	0.82[EUR][1000 genomes]
rs61834105	0.82[EUR][1000 genomes]
rs61834109	0.82[EUR][1000 genomes]
rs61834110	0.82[EUR][1000 genomes]
rs61834116	0.82[EUR][1000 genomes]
rs61834117	0.82[EUR][1000 genomes]
rs61834118	0.82[EUR][1000 genomes]
rs61834119	0.82[EUR][1000 genomes]
rs61834123	0.85[EUR][1000 genomes]
rs61834126	0.93[EUR][1000 genomes]
rs61834136	0.93[EUR][1000 genomes]
rs61834137	0.93[EUR][1000 genomes]
rs61834138	0.93[EUR][1000 genomes]
rs61834141	0.93[EUR][1000 genomes]
rs61834142	0.93[EUR][1000 genomes]
rs9429904	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
2	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:213405800-213457600	Weak transcription	NHLF	lung
5	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
7	chr1:213415600-213453800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:213417200-213453600	Weak transcription	HSMMtube	muscle
9	chr1:213433800-213454800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:213434400-213454800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:213434400-213454800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:213434600-213453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:213434600-213453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:213435200-213456200	Weak transcription	Esophagus	oesophagus
15	chr1:213440000-213469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:213440600-213452400	Weak transcription	Aorta	Aorta
17	chr1:213440600-213454200	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:213440600-213454400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:213440600-213454800	Weak transcription	Left Ventricle	heart
20	chr1:213440800-213457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:213440800-213465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:213441000-213454600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:213443600-213457000	Weak transcription	Lung	lung
24	chr1:213444000-213454800	Weak transcription	Fetal Brain Female	brain
25	chr1:213444000-213455000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:213444200-213457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:213445600-213454400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:213447200-213454400	Enhancers	HepG2	liver
29	chr1:213447400-213457600	Weak transcription	NHDF-Ad	bronchial
30	chr1:213447800-213454400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:213447800-213454600	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:213447800-213457000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:213447800-213457600	Weak transcription	Osteobl	bone
34	chr1:213448000-213453000	Weak transcription	Primary T cells from cord blood	blood
35	chr1:213448400-213454800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:213448400-213457600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:213448800-213453200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:213449400-213457600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:213449400-213458200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:213449600-213457600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:213450000-213452400	Weak transcription	Adipose Nuclei	Adipose
42	chr1:213450400-213452600	Weak transcription	Liver	Liver
43	chr1:213450800-213454600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:213451000-213453400	Weak transcription	Psoas Muscle	Psoas
45	chr1:213451000-213454800	Weak transcription	HSMM	muscle
46	chr1:213451400-213452800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:213452200-213453200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:213452200-213454200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:213452200-213454600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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