Variant report

Variant	rs58568453
Chromosome Location	chr7:150388788-150388789
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	chr7:150380547..150382670-chr7:150386657..150389613,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1016193	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10234910	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10243000	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10243355	0.88[EUR][1000 genomes]
rs10268452	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275039	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10275417	0.88[EUR][1000 genomes]
rs10278670	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049248	0.87[EUR][1000 genomes]
rs2241021	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2373845	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2373846	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2373847	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4629771	0.88[EUR][1000 genomes]
rs6944136	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6952002	0.82[ASN][1000 genomes]
rs73163557	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7357320	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150383600-150389400	Weak transcription	Fetal Stomach	stomach
2	chr7:150383600-150389600	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:150383600-150390800	Weak transcription	Small Intestine	intestine
4	chr7:150383600-150391000	Weak transcription	Gastric	stomach
5	chr7:150383600-150391400	Weak transcription	Brain Substantia Nigra	brain
6	chr7:150383800-150392200	Weak transcription	Right Atrium	heart
7	chr7:150383800-150392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:150384200-150390600	ZNF genes & repeats	GM12878-XiMat	blood
9	chr7:150384600-150388800	Genic enhancers	Spleen	Spleen
10	chr7:150385000-150391600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:150385200-150390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:150385200-150390400	Weak transcription	HUVEC	blood vessel
13	chr7:150385600-150390000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:150385600-150390000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:150385800-150390600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:150385800-150391200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr7:150385800-150392200	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:150386000-150389400	Weak transcription	Esophagus	oesophagus
19	chr7:150386000-150390200	Strong transcription	Liver	Liver
20	chr7:150386200-150391200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:150386600-150389800	Strong transcription	Thymus	Thymus
22	chr7:150386600-150391200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr7:150387000-150393200	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr7:150387200-150389800	Strong transcription	Adipose Nuclei	Adipose
25	chr7:150387200-150390000	ZNF genes & repeats	Lung	lung
26	chr7:150387200-150390200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr7:150387200-150390200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:150387200-150391200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
29	chr7:150387200-150393600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr7:150387600-150390600	Genic enhancers	Dnd41	blood
31	chr7:150387600-150391400	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr7:150387800-150390200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:150387800-150390400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
34	chr7:150387800-150391200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr7:150388000-150390200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
36	chr7:150388000-150391200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr7:150388000-150391200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr7:150388200-150389000	ZNF genes & repeats	Fetal Lung	lung
39	chr7:150388200-150389400	Weak transcription	Left Ventricle	heart
40	chr7:150388200-150390000	ZNF genes & repeats	Fetal Thymus	thymus
41	chr7:150388200-150390200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:150388200-150390400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr7:150388200-150390600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:150388200-150391200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr7:150388200-150391600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:150388400-150389400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:150388400-150389800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:150388400-150390000	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:150388400-150390200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr7:150388400-150392200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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