Variant report

Variant	rs60372854
Chromosome Location	chr5:115645187-115645188
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs13360956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139822	1.00[EUR][1000 genomes]
rs1863988	1.00[EUR][1000 genomes]
rs1963859	1.00[EUR][1000 genomes]
rs57331771	1.00[EUR][1000 genomes]
rs57894479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58112531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59453842	1.00[EUR][1000 genomes]
rs59710297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59909017	1.00[EUR][1000 genomes]
rs60032314	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114388	1.00[AMR][1000 genomes]
rs60456887	1.00[EUR][1000 genomes]
rs73255186	1.00[EUR][1000 genomes]
rs73257274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73257281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259092	1.00[EUR][1000 genomes]
rs73261010	1.00[EUR][1000 genomes]
rs73261020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261052	1.00[AMR][1000 genomes]
rs73261087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266825	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266826	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266864	1.00[AMR][1000 genomes]
rs73268917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268959	1.00[EUR][1000 genomes]
rs73268964	1.00[EUR][1000 genomes]
rs73268967	1.00[EUR][1000 genomes]
rs73268975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270707	1.00[EUR][1000 genomes]
rs73270746	1.00[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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:115634400-115645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:115639400-115645200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr5:115639600-115647400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:115640200-115645600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr5:115640200-115647200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr5:115640400-115645800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr5:115640600-115645200	ZNF genes & repeats	Fetal Lung	lung
9	chr5:115640600-115645200	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr5:115640600-115645600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr5:115640800-115645600	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr5:115640800-115658200	Weak transcription	Colonic Mucosa	Colon
13	chr5:115641000-115653000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:115641400-115645600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr5:115641400-115651800	Weak transcription	Esophagus	oesophagus
16	chr5:115641600-115647200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:115642000-115654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:115642400-115645600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr5:115642400-115653000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:115642600-115646000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr5:115642600-115654400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:115642800-115650800	Weak transcription	A549	lung
23	chr5:115642800-115655800	Weak transcription	Fetal Thymus	thymus
24	chr5:115643000-115645400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:115643000-115648200	Weak transcription	Fetal Stomach	stomach
26	chr5:115643000-115653000	Weak transcription	Right Ventricle	heart
27	chr5:115643000-115656800	Weak transcription	Gastric	stomach
28	chr5:115643200-115650200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:115643200-115660200	Weak transcription	Placenta	Placenta
30	chr5:115643200-115664200	Weak transcription	Thymus	Thymus
31	chr5:115643200-115664800	Weak transcription	Pancreas	Pancrea
32	chr5:115643200-115669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:115643400-115646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:115643600-115645600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr5:115644000-115645200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:115644000-115649000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:115644000-115649000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:115644000-115658600	Weak transcription	HSMM	muscle
39	chr5:115644200-115653200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:115644200-115655800	Weak transcription	HUVEC	blood vessel
41	chr5:115644400-115653000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:115644400-115653200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:115644400-115654200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:115644400-115664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:115644400-115671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:115644800-115645200	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr5:115644800-115645200	Weak transcription	Dnd41	blood
48	chr5:115644800-115645400	ZNF genes & repeats	Left Ventricle	heart
49	chr5:115644800-115645600	ZNF genes & repeats	Psoas Muscle	Psoas
50	chr5:115645000-115645200	ZNF genes & repeats	Lung	lung

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