Variant report

Variant	rs60741550
Chromosome Location	chr5:58317393-58317394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13360359	0.83[ASN][1000 genomes]
rs1400224	0.81[ASN][1000 genomes]
rs2277013	1.00[AMR][1000 genomes]
rs3805555	1.00[AMR][1000 genomes]
rs56658018	0.81[ASN][1000 genomes]
rs57338410	1.00[AMR][1000 genomes]
rs57454281	1.00[AMR][1000 genomes]
rs57718768	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57835046	0.89[ASN][1000 genomes]
rs58202935	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58688754	1.00[AMR][1000 genomes]
rs58830206	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59840765	1.00[AMR][1000 genomes]
rs60286676	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60527700	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60790143	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60836618	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60900708	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61288498	0.83[ASN][1000 genomes]
rs6869400	0.81[ASN][1000 genomes]
rs6883494	0.89[ASN][1000 genomes]
rs73093337	0.81[ASN][1000 genomes]
rs73093348	0.81[ASN][1000 genomes]
rs73093351	1.00[AMR][1000 genomes];0.81[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58279400-58317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
3	chr5:58281800-58321600	Weak transcription	Osteobl	bone
4	chr5:58286200-58330400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:58286200-58330600	Weak transcription	Thymus	Thymus
6	chr5:58288800-58330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:58296000-58321600	Weak transcription	Aorta	Aorta
8	chr5:58298600-58317800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:58299800-58318000	Weak transcription	Right Ventricle	heart
10	chr5:58302400-58321600	Weak transcription	Gastric	stomach
11	chr5:58303600-58317800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:58307000-58322000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:58310800-58323400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:58313000-58317600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:58313000-58333400	Weak transcription	Lung	lung
16	chr5:58313200-58325600	Weak transcription	Fetal Lung	lung
17	chr5:58313200-58330200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:58313800-58317800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:58314000-58318600	Strong transcription	Fetal Thymus	thymus
20	chr5:58314200-58318000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:58314200-58318400	Enhancers	Fetal Heart	heart
22	chr5:58314400-58323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:58314600-58321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:58314800-58318600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:58314800-58323000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:58315000-58325800	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:58315200-58318600	Genic enhancers	Primary T cells from cord blood	blood
28	chr5:58315400-58317800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:58315400-58318600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:58315600-58317600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:58315600-58318000	Weak transcription	Left Ventricle	heart
32	chr5:58316000-58317800	Weak transcription	HSMM	muscle
33	chr5:58316200-58317400	Enhancers	Fetal Intestine Large	intestine
34	chr5:58316200-58317400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr5:58316200-58317600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:58316200-58317800	Enhancers	Fetal Intestine Small	intestine
37	chr5:58316200-58318000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr5:58316400-58317400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:58316400-58317400	Enhancers	NHEK	skin
40	chr5:58316400-58317600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:58316400-58318000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:58316400-58318000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:58316400-58318800	Enhancers	Colon Smooth Muscle	Colon
44	chr5:58316600-58317400	Enhancers	Fetal Kidney	kidney
45	chr5:58316600-58317600	Enhancers	HepG2	liver
46	chr5:58316600-58318000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:58316600-58318000	Enhancers	Duodenum Mucosa	Duodenum
48	chr5:58316600-58318200	Enhancers	Colonic Mucosa	Colon
49	chr5:58316600-58319200	Enhancers	Hela-S3	cervix
50	chr5:58316800-58317400	Enhancers	HUES48 Cell Line	embryonic stem cell

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