Variant report

Variant	rs59280186
Chromosome Location	chr2:47659770-47659771
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17036636	0.81[EUR][1000 genomes]
rs17039235	0.84[EUR][1000 genomes]
rs17218293	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17218439	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17218550	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17224262	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17224794	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3923035	0.92[EUR][1000 genomes]
rs6741393	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6757620	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72884684	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888234	0.81[EUR][1000 genomes]
rs72888253	0.81[EUR][1000 genomes]
rs73927791	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
3	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
4	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
5	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
6	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
7	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:47644800-47692000	Weak transcription	Fetal Brain Male	brain
10	chr2:47647400-47662800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:47648600-47668600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:47652000-47666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47655600-47682800	Weak transcription	Stomach Mucosa	stomach
14	chr2:47657200-47660800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:47657600-47660200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr2:47657800-47664800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:47658000-47670600	Weak transcription	Aorta	Aorta
18	chr2:47658000-47674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:47658000-47690400	Weak transcription	NHEK	skin
20	chr2:47658000-47707000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:47658000-47714200	Weak transcription	Small Intestine	intestine
22	chr2:47658200-47660000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:47658200-47663400	Weak transcription	A549	lung
24	chr2:47658200-47665200	Weak transcription	HMEC	breast
25	chr2:47658200-47665200	Weak transcription	K562	blood
26	chr2:47658200-47665400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:47658200-47668800	Weak transcription	Spleen	Spleen
28	chr2:47658200-47670600	Weak transcription	Brain Angular Gyrus	brain
29	chr2:47658200-47671200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:47658200-47673000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:47658200-47674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:47658200-47690200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:47658200-47690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:47658200-47690400	Weak transcription	Left Ventricle	heart
35	chr2:47658200-47690600	Weak transcription	Brain Anterior Caudate	brain
36	chr2:47658200-47691000	Weak transcription	Gastric	stomach
37	chr2:47658200-47692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:47658200-47692600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:47658200-47709200	Weak transcription	Brain Substantia Nigra	brain
40	chr2:47658200-47710400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:47658200-47713400	Weak transcription	Fetal Heart	heart
42	chr2:47658200-47714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:47658200-47714800	Weak transcription	HSMMtube	muscle
44	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:47658400-47660400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:47658400-47660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:47658400-47661400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:47658400-47663600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:47658400-47663800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:47658400-47663800	Weak transcription	GM12878-XiMat	blood

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