Variant report

Variant	rs7548248
Chromosome Location	chr1:58970496-58970497
allele	G/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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1032822	1.00[AMR][1000 genomes]
rs186823	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2406786	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4912348	1.00[AMR][1000 genomes]
rs549237	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs6587823	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674886	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683003	1.00[AMR][1000 genomes]
rs7550981	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs902925	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][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

No data

Chromatin state (count:88 , 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	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:58931600-58974000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:58932600-58974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:58932600-58977000	Weak transcription	HSMMtube	muscle
7	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:58934600-58974000	Weak transcription	Right Ventricle	heart
9	chr1:58934800-58976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:58934800-58994000	Weak transcription	HSMM	muscle
11	chr1:58935000-58974000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:58942000-58974200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:58942200-58974200	Weak transcription	Fetal Thymus	thymus
14	chr1:58944600-58976000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:58945800-58974200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:58946200-58974000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:58946200-58977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
19	chr1:58946400-58973800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:58946600-58977000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:58947600-58977000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:58948400-58977000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:58950200-58976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:58952800-58977200	Weak transcription	Small Intestine	intestine
26	chr1:58953000-58974000	Weak transcription	Fetal Lung	lung
27	chr1:58953200-58986000	Weak transcription	Colonic Mucosa	Colon
28	chr1:58953600-58999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:58955000-58974000	Weak transcription	Esophagus	oesophagus
30	chr1:58955000-58974000	Weak transcription	Pancreas	Pancrea
31	chr1:58955000-58974000	Weak transcription	Thymus	Thymus
32	chr1:58955000-58976600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:58955000-58976800	Weak transcription	Fetal Kidney	kidney
34	chr1:58955000-58986400	Weak transcription	Gastric	stomach
35	chr1:58955000-58988200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:58955200-58974000	Weak transcription	Aorta	Aorta
37	chr1:58960800-58976600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:58961600-58974200	Weak transcription	Fetal Stomach	stomach
39	chr1:58962800-58971600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:58963400-58974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:58963800-58974000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:58963800-58999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:58964200-58978600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:58964600-58971800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:58964800-58986400	Weak transcription	K562	blood
46	chr1:58965600-58972000	Strong transcription	Primary B cells from cord blood	blood
47	chr1:58966400-58974000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:58966400-58976800	Weak transcription	NHEK	skin
49	chr1:58966600-59010600	Weak transcription	Placenta	Placenta
50	chr1:58967000-58970600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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