Variant report

Variant	rs6587818
Chromosome Location	chr1:58969133-58969134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58961771..58963542-chr1:58968786..58970688,2	K562	blood:
2	chr1:58963913..58966906-chr1:58967410..58971434,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10458559	0.80[EUR][1000 genomes]
rs10789063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10789064	0.80[EUR][1000 genomes]
rs10789065	0.80[EUR][1000 genomes]
rs10789067	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10889098	1.00[ASN][1000 genomes]
rs10889100	0.80[EUR][1000 genomes]
rs10889101	0.80[EUR][1000 genomes]
rs1109895	0.80[EUR][1000 genomes]
rs1109896	0.80[EUR][1000 genomes]
rs1114660	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207236	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11207237	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11207240	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11207245	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11207250	0.80[EUR][1000 genomes]
rs11207251	0.80[EUR][1000 genomes]
rs11207252	0.80[EUR][1000 genomes]
rs11207253	0.80[EUR][1000 genomes]
rs11207254	0.80[EUR][1000 genomes]
rs1121422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030713	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12088149	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12124662	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12125391	0.80[EUR][1000 genomes]
rs12142098	0.80[EUR][1000 genomes]
rs1388981	0.87[ASN][1000 genomes]
rs1775002	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2087799	0.80[EUR][1000 genomes]
rs2406784	0.80[EUR][1000 genomes]
rs28529311	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3087585	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs338224	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs338225	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs338228	0.86[AFR][1000 genomes]
rs4912195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912344	0.87[ASN][1000 genomes]
rs6587819	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587820	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587828	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6656025	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661832	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6667614	0.87[ASN][1000 genomes]
rs6667703	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687324	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67639631	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7355165	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7355166	0.82[EUR][1000 genomes]
rs7517424	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520008	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7536230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544032	0.87[ASN][1000 genomes]
rs7546900	0.80[EUR][1000 genomes]
rs7547036	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7554278	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs905567	0.80[EUR][1000 genomes]
rs9660901	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv829948	chr1:58803681-58971380	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6587818	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL
rs6587818	TACSTD2	cis	Whole Blood	GTEx
rs6587818	TACSTD2	cis	Thyroid	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
2	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:58931200-58969400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:58931600-58974000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:58932600-58974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:58932600-58977000	Weak transcription	HSMMtube	muscle
8	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:58934600-58974000	Weak transcription	Right Ventricle	heart
10	chr1:58934800-58969200	Weak transcription	Liver	Liver
11	chr1:58934800-58976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:58934800-58994000	Weak transcription	HSMM	muscle
13	chr1:58935000-58974000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:58942000-58969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:58942000-58974200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:58942200-58974200	Weak transcription	Fetal Thymus	thymus
17	chr1:58944600-58976000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:58945800-58974200	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:58946200-58974000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:58946200-58977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
22	chr1:58946400-58973800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:58946600-58977000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:58947600-58977000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:58948400-58977000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:58949600-58969400	Weak transcription	Dnd41	blood
28	chr1:58949800-58969200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:58950200-58976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:58952800-58977200	Weak transcription	Small Intestine	intestine
31	chr1:58953000-58974000	Weak transcription	Fetal Lung	lung
32	chr1:58953200-58986000	Weak transcription	Colonic Mucosa	Colon
33	chr1:58953600-58999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:58955000-58969600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:58955000-58974000	Weak transcription	Esophagus	oesophagus
36	chr1:58955000-58974000	Weak transcription	Pancreas	Pancrea
37	chr1:58955000-58974000	Weak transcription	Thymus	Thymus
38	chr1:58955000-58976600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:58955000-58976800	Weak transcription	Fetal Kidney	kidney
40	chr1:58955000-58986400	Weak transcription	Gastric	stomach
41	chr1:58955000-58988200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:58955200-58974000	Weak transcription	Aorta	Aorta
43	chr1:58960800-58976600	Weak transcription	Brain Anterior Caudate	brain
44	chr1:58961600-58974200	Weak transcription	Fetal Stomach	stomach
45	chr1:58962200-58969200	Weak transcription	Lung	lung
46	chr1:58962800-58971600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:58963400-58974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:58963800-58974000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:58963800-58999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:58964200-58969400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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