Variant report

Variant	rs447299
Chromosome Location	chr15:59021575-59021576
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59020037..59022802-chr15:59058801..59061672,2	K562	blood:
2	chr15:59021059..59023749-chr15:59034779..59037397,2	K562	blood:

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

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

rs_ID	r²[population]
rs11071396	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11852241	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12437552	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17236243	0.80[ASN][1000 genomes]
rs2414606	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2414607	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3933541	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs394845	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs655348	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs681711	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs694335	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168275	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7173286	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7179724	0.83[ASN][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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:58990000-59023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:58992000-59023000	Weak transcription	Esophagus	oesophagus
4	chr15:58992000-59023800	Weak transcription	Aorta	Aorta
5	chr15:58999000-59023800	Weak transcription	Gastric	stomach
6	chr15:59005200-59022400	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:59005600-59021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:59005600-59023000	Weak transcription	Spleen	Spleen
9	chr15:59005600-59023600	Weak transcription	NHEK	skin
10	chr15:59005800-59022800	Weak transcription	HMEC	breast
11	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:59006200-59023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:59006200-59024000	Weak transcription	Pancreas	Pancrea
14	chr15:59006400-59021600	Weak transcription	Fetal Stomach	stomach
15	chr15:59006400-59022800	Weak transcription	Fetal Intestine Small	intestine
16	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
17	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:59010000-59021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:59010200-59024000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:59010200-59024200	Weak transcription	HepG2	liver
23	chr15:59010800-59031200	Weak transcription	Dnd41	blood
24	chr15:59011200-59022400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:59011200-59023800	Weak transcription	Hela-S3	cervix
26	chr15:59013200-59030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:59013400-59022400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:59013400-59024000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:59013400-59029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:59015000-59024200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:59016800-59025000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr15:59016800-59034200	Weak transcription	Brain Germinal Matrix	brain
33	chr15:59017000-59022400	Weak transcription	Brain Substantia Nigra	brain
34	chr15:59017000-59022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:59017000-59023800	Weak transcription	Fetal Heart	heart
36	chr15:59017000-59024000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:59017200-59021600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:59017200-59021800	Weak transcription	Thymus	Thymus
39	chr15:59017200-59022000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:59017200-59022200	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:59017200-59022200	Weak transcription	HSMMtube	muscle
42	chr15:59017200-59022400	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:59017200-59023000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:59017200-59023400	Weak transcription	Brain Anterior Caudate	brain
45	chr15:59017200-59023600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:59017200-59023600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:59017200-59023600	Weak transcription	Stomach Mucosa	stomach
48	chr15:59017200-59023800	Weak transcription	Adipose Nuclei	Adipose
49	chr15:59017200-59023800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:59017200-59023800	Weak transcription	K562	blood

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