Variant report

Variant	rs7183293
Chromosome Location	chr15:40486255-40486256
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11853477	1.00[ASN][1000 genomes]
rs11858747	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148261	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494533	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1680156	1.00[ASN][1000 genomes]
rs17668261	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801389	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759843	1.00[ASN][1000 genomes]
rs62019997	1.00[ASN][1000 genomes]
rs62020025	1.00[ASN][1000 genomes]
rs62020027	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020029	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020031	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020050	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7165187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171605	1.00[ASN][1000 genomes]
rs7173181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182070	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74011373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023415	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:40454000-40515200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:40454600-40502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
6	chr15:40455600-40518200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:40455600-40522200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
9	chr15:40456200-40524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:40456200-40524000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:40461600-40486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:40464000-40490200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:40465000-40489600	Weak transcription	Fetal Intestine Large	intestine
14	chr15:40471400-40517600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:40471400-40524400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:40473200-40517800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:40473600-40487400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr15:40473600-40525200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:40475000-40491600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:40475000-40526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:40475400-40488800	Weak transcription	NH-A	brain
22	chr15:40475400-40522600	Strong transcription	Dnd41	blood
23	chr15:40475600-40490000	Strong transcription	Fetal Thymus	thymus
24	chr15:40476200-40489400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:40476600-40490000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:40476800-40491600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr15:40478000-40489600	Weak transcription	Primary B cells from cord blood	blood
28	chr15:40479400-40492200	Weak transcription	Fetal Kidney	kidney
29	chr15:40480200-40489200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:40480600-40500000	Weak transcription	Fetal Intestine Small	intestine
31	chr15:40481000-40487600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:40481800-40524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:40482000-40488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:40482000-40489200	Weak transcription	Fetal Heart	heart
35	chr15:40482200-40492400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:40482400-40489200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr15:40482800-40497000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:40483000-40489000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:40483000-40526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:40483200-40488800	Weak transcription	NHLF	lung
41	chr15:40483200-40501000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:40483400-40487000	Strong transcription	GM12878-XiMat	blood
43	chr15:40483400-40490200	Weak transcription	NHEK	skin
44	chr15:40483400-40490800	Weak transcription	Thymus	Thymus
45	chr15:40483800-40493000	Strong transcription	K562	blood
46	chr15:40483800-40509400	Weak transcription	Fetal Brain Male	brain
47	chr15:40484000-40490000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:40484200-40489000	Weak transcription	HSMM	muscle
49	chr15:40484400-40497800	Weak transcription	Osteobl	bone
50	chr15:40485000-40487200	Strong transcription	Hela-S3	cervix

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