Variant report

Variant	rs57376645
Chromosome Location	chr1:213297712-213297713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213254515..213256394-chr1:213295940..213298731,2	K562	blood:
2	chr1:212783045..212785290-chr1:213295764..213298045,2	K562	blood:
3	chr1:213295280..213298401-chr1:213299446..213303387,4	K562	blood:

Variant related genes	Relation type
ENSG00000136643	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11120089	1.00[EUR][1000 genomes]
rs1187777	0.82[EUR][1000 genomes]
rs1187788	0.85[EUR][1000 genomes]
rs1187802	0.82[EUR][1000 genomes]
rs1187806	0.85[EUR][1000 genomes]
rs12065249	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12082134	0.89[EUR][1000 genomes]
rs1628854	0.82[EUR][1000 genomes]
rs17742003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2654910	0.85[EUR][1000 genomes]
rs2817985	0.89[EUR][1000 genomes]
rs2841422	0.82[EUR][1000 genomes]
rs2841433	0.89[EUR][1000 genomes]
rs41277160	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs41277162	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs41307658	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4655415	0.89[EUR][1000 genomes]
rs57140665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57188196	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57352598	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57670103	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs57845296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58482452	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs58865439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59892045	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60194877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60727621	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61832445	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61832446	1.00[AFR][1000 genomes]
rs61832447	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61832460	1.00[AFR][1000 genomes]
rs61832461	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61832463	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61832465	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61832467	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61832468	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61832470	1.00[AFR][1000 genomes]
rs61832471	1.00[AFR][1000 genomes]
rs61832474	1.00[AFR][1000 genomes]
rs61832475	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832476	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832498	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832499	0.89[EUR][1000 genomes]
rs61832501	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832502	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832503	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832508	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832509	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832510	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832511	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832513	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832528	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832529	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832533	1.00[AFR][1000 genomes]
rs61832534	1.00[AFR][1000 genomes]
rs61834072	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834076	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834077	1.00[AFR][1000 genomes]
rs61834080	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834082	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834083	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834084	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834086	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834087	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834088	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834089	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834091	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834092	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61834093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834111	1.00[AFR][1000 genomes]
rs61834116	1.00[EUR][1000 genomes]
rs61834117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834118	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834123	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs61834126	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61834135	1.00[AFR][1000 genomes]
rs61834136	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61834137	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61834138	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61834139	1.00[AFR][1000 genomes]
rs61834140	1.00[AFR][1000 genomes]
rs61834141	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61834142	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9429904	0.89[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213309200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
3	chr1:213269400-213308400	Weak transcription	Ovary	ovary
4	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:213271200-213309200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:213281200-213301000	Weak transcription	Fetal Lung	lung
8	chr1:213281200-213309000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
11	chr1:213281400-213303400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
14	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
17	chr1:213285600-213303000	Weak transcription	GM12878-XiMat	blood
18	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:213294200-213300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:213295800-213297800	Enhancers	HUVEC	blood vessel
23	chr1:213296000-213297800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:213296000-213297800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:213296000-213297800	Enhancers	A549	lung
26	chr1:213296000-213297800	Enhancers	Hela-S3	cervix
27	chr1:213296000-213297800	Enhancers	NH-A	brain
28	chr1:213296000-213297800	Enhancers	Osteobl	bone
29	chr1:213296000-213298400	Enhancers	Stomach Mucosa	stomach
30	chr1:213296200-213297800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:213296200-213297800	Enhancers	Fetal Intestine Small	intestine
32	chr1:213296200-213297800	Enhancers	HMEC	breast
33	chr1:213296200-213297800	Enhancers	NHEK	skin
34	chr1:213296400-213297800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:213296400-213297800	Enhancers	HSMM	muscle
36	chr1:213296400-213305400	Weak transcription	Brain Substantia Nigra	brain
37	chr1:213296600-213297800	Enhancers	HSMMtube	muscle
38	chr1:213296800-213300400	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:213297000-213298200	Enhancers	Psoas Muscle	Psoas
40	chr1:213297000-213299200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:213297200-213297800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:213297200-213297800	Enhancers	Gastric	stomach
43	chr1:213297200-213305400	Weak transcription	Brain Anterior Caudate	brain
44	chr1:213297400-213297800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:213297400-213305400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:213297400-213308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:213297600-213297800	Enhancers	Fetal Heart	heart
49	chr1:213297600-213298600	Flanking Active TSS	K562	blood
50	chr1:213297600-213300000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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