Variant report

Variant	rs10413413
Chromosome Location	chr19:43014481-43014482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10084159	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10401271	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10402361	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10402677	0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10403517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10403979	0.80[EUR][1000 genomes]
rs10405445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10405646	0.87[AMR][1000 genomes]
rs10405906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407576	0.88[CEU][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10412463	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10415564	0.80[AMR][1000 genomes]
rs10416089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10417418	0.80[AMR][1000 genomes]
rs10417693	0.80[AMR][1000 genomes]
rs10419378	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10420796	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10421108	0.86[AMR][1000 genomes]
rs10422987	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10469271	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10469284	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469286	0.88[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1076243	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11083659	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11665870	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11665935	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666350	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666835	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11666862	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11668599	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11671272	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11671846	0.85[EUR][1000 genomes]
rs11673645	0.85[EUR][1000 genomes]
rs11879306	0.88[EUR][1000 genomes]
rs11881517	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11882150	0.88[EUR][1000 genomes]
rs12611218	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343936	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16975865	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16975890	0.83[EUR][1000 genomes]
rs1859341	0.80[AMR][1000 genomes]
rs2267631	0.88[CEU][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28411988	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28447294	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4080606	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4499340	0.80[AMR][1000 genomes]
rs55850134	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56237547	0.80[EUR][1000 genomes]
rs60313903	0.85[EUR][1000 genomes]
rs6509020	0.80[EUR][1000 genomes]
rs7248297	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7253056	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253209	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8102439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102519	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8103285	0.88[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8103891	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8106083	0.80[AMR][1000 genomes]
rs8106570	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8107152	0.88[CEU][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8107254	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8107790	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8108844	0.86[YRI][hapmap]
rs8110917	0.80[EUR][1000 genomes]
rs8112156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs851298	0.85[EUR][1000 genomes]
rs851301	0.88[EUR][1000 genomes]
rs851302	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9304604	0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43002200-43015000	Weak transcription	Spleen	Spleen
2	chr19:43002200-43025200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:43002400-43022400	Weak transcription	Lung	lung
4	chr19:43002800-43014800	Weak transcription	Adipose Nuclei	Adipose
5	chr19:43002800-43014800	Weak transcription	Left Ventricle	heart
6	chr19:43002800-43023000	Weak transcription	Gastric	stomach
7	chr19:43003200-43014600	Weak transcription	Primary B cells from cord blood	blood
8	chr19:43003200-43030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:43003400-43014600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr19:43003400-43015200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:43003400-43019000	Weak transcription	Placenta	Placenta
12	chr19:43003400-43028400	Weak transcription	Esophagus	oesophagus
13	chr19:43003400-43029400	Weak transcription	Small Intestine	intestine
14	chr19:43003600-43015000	Weak transcription	Colonic Mucosa	Colon
15	chr19:43003600-43015600	Weak transcription	Brain Anterior Caudate	brain
16	chr19:43003800-43015000	Weak transcription	Fetal Intestine Small	intestine
17	chr19:43004000-43014600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:43004600-43015000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:43006200-43029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:43006400-43014600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:43008000-43014600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:43009200-43023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:43010200-43024800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:43010800-43015000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:43010800-43023000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr19:43011000-43015000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:43011000-43015000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:43011600-43014600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:43012200-43028200	Strong transcription	Liver	Liver
30	chr19:43012600-43016200	Enhancers	GM12878-XiMat	blood
31	chr19:43012600-43016600	Strong transcription	Primary T cells from cord blood	blood
32	chr19:43012600-43017800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:43012800-43015000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:43012800-43016000	Strong transcription	Fetal Intestine Large	intestine
35	chr19:43012800-43016200	Weak transcription	Right Ventricle	heart
36	chr19:43012800-43016400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:43013000-43015000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr19:43013000-43016600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:43013000-43016600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr19:43013200-43016400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:43013200-43016400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr19:43013400-43014800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:43013400-43015000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:43013400-43015200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr19:43013400-43015200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:43013400-43016200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:43013400-43016400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:43013400-43016600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:43013600-43014800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:43013600-43014800	Weak transcription	HepG2	liver

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