Variant report

Variant	rs45604436
Chromosome Location	chr15:41022258-41022259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10220885	1.00[EUR][1000 genomes]
rs12323939	1.00[EUR][1000 genomes]
rs16971119	1.00[EUR][1000 genomes]
rs45501094	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45571032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896567	1.00[EUR][1000 genomes]
rs55906732	1.00[EUR][1000 genomes]
rs56229816	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57242620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57288992	1.00[EUR][1000 genomes]
rs58097169	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58375351	1.00[EUR][1000 genomes]
rs58681580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58738238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59508492	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59528823	1.00[EUR][1000 genomes]
rs59558714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60109064	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60111609	1.00[EUR][1000 genomes]
rs60163307	1.00[EUR][1000 genomes]
rs60578270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60822673	1.00[EUR][1000 genomes]
rs6492962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6492963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166733	1.00[EUR][1000 genomes]
rs7167831	1.00[EUR][1000 genomes]
rs7168217	1.00[EUR][1000 genomes]
rs7169273	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7171451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171898	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7172356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178058	1.00[EUR][1000 genomes]
rs7178244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182066	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182516	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011887	1.00[EUR][1000 genomes]
rs74011888	1.00[EUR][1000 genomes]
rs74011933	1.00[EUR][1000 genomes]
rs74011936	1.00[EUR][1000 genomes]
rs8035580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039169	1.00[EUR][1000 genomes]
rs8039942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040579	1.00[EUR][1000 genomes]
rs8040925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9672224	1.00[EUR][1000 genomes]
rs9744142	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv527234	chr15:40987725-41031686	Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40988000-41030000	Weak transcription	Pancreas	Pancrea
2	chr15:40988200-41028600	Weak transcription	Spleen	Spleen
3	chr15:40988400-41027200	Weak transcription	Primary B cells from cord blood	blood
4	chr15:40988400-41031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:40990600-41022600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:40993200-41025800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:40998200-41023200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:40998800-41038000	Weak transcription	Stomach Mucosa	stomach
9	chr15:40999000-41027600	Weak transcription	Gastric	stomach
10	chr15:41000000-41026000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:41003800-41023800	Weak transcription	Fetal Lung	lung
12	chr15:41004800-41023400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:41008200-41046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:41012800-41023600	Weak transcription	Brain Substantia Nigra	brain
15	chr15:41012800-41028200	Weak transcription	NHLF	lung
16	chr15:41014600-41029600	Weak transcription	Esophagus	oesophagus
17	chr15:41016600-41027400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:41018800-41024800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr15:41019000-41023800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:41019200-41023600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr15:41019200-41035600	Weak transcription	Fetal Heart	heart
22	chr15:41019400-41024600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:41019400-41028600	Weak transcription	Fetal Brain Male	brain
24	chr15:41019400-41036000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:41019400-41046200	Strong transcription	Fetal Stomach	stomach
26	chr15:41019600-41023600	Weak transcription	Adipose Nuclei	Adipose
27	chr15:41019600-41024600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr15:41019600-41027000	Weak transcription	Small Intestine	intestine
29	chr15:41019600-41036200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:41019600-41036200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:41020000-41022800	Strong transcription	HepG2	liver
32	chr15:41020000-41026200	Weak transcription	Lung	lung
33	chr15:41020000-41027800	Weak transcription	Psoas Muscle	Psoas
34	chr15:41020000-41029800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr15:41020000-41036000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:41020000-41043600	Strong transcription	Dnd41	blood
37	chr15:41020200-41023200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:41020200-41027800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:41020200-41030600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:41020400-41023600	Weak transcription	Brain Angular Gyrus	brain
41	chr15:41020400-41026000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:41020400-41026600	Weak transcription	Brain Anterior Caudate	brain
43	chr15:41020400-41027200	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:41020400-41027600	Weak transcription	Left Ventricle	heart
45	chr15:41020400-41027800	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:41020400-41028000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:41020400-41028200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:41020400-41028200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr15:41020400-41035600	Strong transcription	K562	blood
50	chr15:41020400-41035800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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