Variant report

Variant	rs10415759
Chromosome Location	chr19:43002056-43002057
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10401224	0.86[YRI][hapmap]
rs10402697	1.00[EUR][1000 genomes]
rs10403856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406800	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes]
rs10408986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409428	0.86[YRI][hapmap]
rs10409433	1.00[AMR][1000 genomes]
rs10410129	1.00[AMR][1000 genomes]
rs10410174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410653	1.00[AMR][1000 genomes]
rs10411498	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs10411565	1.00[EUR][1000 genomes]
rs10411908	1.00[AMR][1000 genomes]
rs10413484	1.00[AMR][1000 genomes]
rs10414502	1.00[EUR][1000 genomes]
rs10414695	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416535	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418312	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418988	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421409	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs10421857	0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes]
rs10425003	1.00[AMR][1000 genomes]
rs10426284	1.00[AMR][1000 genomes]
rs10469287	1.00[EUR][1000 genomes]
rs11878183	1.00[EUR][1000 genomes]
rs11878207	0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11879211	1.00[EUR][1000 genomes]
rs11880356	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs13343322	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs13343388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13343719	1.00[AMR][1000 genomes]
rs13343761	1.00[AMR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes]
rs13343966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13346831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229614	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28402882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28463673	1.00[AMR][1000 genomes]
rs28469564	1.00[AMR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes]
rs28483598	1.00[AMR][1000 genomes]
rs28496975	1.00[AMR][1000 genomes]
rs28545051	1.00[EUR][1000 genomes]
rs28657829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28663042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675764	1.00[AMR][1000 genomes]
rs28686771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28699037	1.00[AMR][1000 genomes]
rs33919763	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35707383	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36089262	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41407146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41446245	1.00[EUR][1000 genomes]
rs59870753	1.00[AMR][1000 genomes]
rs60950516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7246232	0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248473	1.00[AMR][1000 genomes]
rs7248543	1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes]
rs7258727	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs73552879	1.00[AMR][1000 genomes]
rs73558432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73560411	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8099885	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs8109258	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs8111527	1.00[EUR][1000 genomes]
rs9304602	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42997000-43003800	Enhancers	Fetal Intestine Small	intestine
2	chr19:42998000-43004800	Enhancers	Fetal Intestine Large	intestine
3	chr19:42999600-43003400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:43000000-43003000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:43000400-43003000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:43000400-43003000	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:43000600-43002600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr19:43000600-43003600	Enhancers	Fetal Kidney	kidney
9	chr19:43000600-43003800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:43000800-43003000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:43000800-43003200	Enhancers	Primary B cells from cord blood	blood
12	chr19:43000800-43003400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr19:43000800-43003400	Enhancers	Small Intestine	intestine
14	chr19:43001000-43002800	Enhancers	Adipose Nuclei	Adipose
15	chr19:43001000-43003200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:43001000-43003600	Enhancers	Brain Hippocampus Middle	brain
17	chr19:43001200-43002600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:43001200-43003800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:43001400-43002200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr19:43001400-43002600	Flanking Active TSS	GM12878-XiMat	blood
21	chr19:43001400-43002800	Enhancers	Fetal Lung	lung
22	chr19:43001400-43003000	Flanking Active TSS	HepG2	liver
23	chr19:43001400-43003200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr19:43001400-43003600	Enhancers	Brain Anterior Caudate	brain
25	chr19:43001400-43003600	Enhancers	Brain Cingulate Gyrus	brain
26	chr19:43001400-43003600	Enhancers	Stomach Mucosa	stomach
27	chr19:43001600-43002400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr19:43001600-43002800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr19:43001600-43003000	Flanking Active TSS	A549	lung
30	chr19:43001600-43003200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr19:43001800-43002200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr19:43001800-43002200	Enhancers	Right Atrium	heart
33	chr19:43001800-43002200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr19:43001800-43002400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr19:43001800-43002400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr19:43001800-43002400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:43001800-43002800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:43001800-43002800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr19:43001800-43002800	Enhancers	Pancreas	Pancrea
40	chr19:43001800-43003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr19:43001800-43003600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:43001800-43003600	Enhancers	Brain Angular Gyrus	brain
43	chr19:43001800-43003600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr19:43001800-43003600	Enhancers	Brain Substantia Nigra	brain
45	chr19:43001800-43003600	Enhancers	Colonic Mucosa	Colon
46	chr19:43001800-43009400	Weak transcription	Aorta	Aorta
47	chr19:43002000-43002200	Enhancers	Primary hematopoietic stem cells	blood
48	chr19:43002000-43002200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:43002000-43002200	Enhancers	Spleen	Spleen
50	chr19:43002000-43002400	Enhancers	H1 Cell Line	embryonic stem cell

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