Variant report

Variant	rs16975890
Chromosome Location	chr19:43030516-43030517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10402361	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10402401	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10402677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10403517	0.83[EUR][1000 genomes]
rs10403979	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10404402	0.90[ASN][1000 genomes]
rs10404509	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10405445	0.83[EUR][1000 genomes]
rs10405646	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10405906	0.83[EUR][1000 genomes]
rs10407178	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10407576	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10410147	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10411165	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10411458	0.96[ASN][1000 genomes]
rs10412463	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10413014	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10413413	0.83[EUR][1000 genomes]
rs10414602	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10415564	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10416089	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10417418	0.89[ASN][1000 genomes]
rs10417693	0.89[ASN][1000 genomes]
rs10419378	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10420164	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10420796	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421108	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421620	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421881	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10422283	0.85[CHB][hapmap]
rs10422573	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10422987	0.93[ASN][1000 genomes]
rs10423291	0.96[ASN][1000 genomes]
rs10469271	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10469284	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10469285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10469286	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1076243	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083659	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11665767	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11666350	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11666425	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11666835	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666862	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668009	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668460	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668599	0.83[AMR][1000 genomes]
rs11669892	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11670316	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11671272	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11671846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11673645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11673684	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11879306	0.96[ASN][1000 genomes]
rs11881517	0.96[ASN][1000 genomes]
rs11882150	0.96[ASN][1000 genomes]
rs11882882	0.87[ASN][1000 genomes]
rs12327586	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12611218	0.83[AMR][1000 genomes]
rs13346414	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16975789	0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs16975865	0.83[EUR][1000 genomes]
rs1859341	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267631	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28411988	0.96[ASN][1000 genomes]
rs28447294	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2883270	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4499340	0.87[ASN][1000 genomes]
rs55641435	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55850134	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56237547	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56978333	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57902582	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59525393	0.87[ASN][1000 genomes]
rs60313903	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60662795	0.94[ASN][1000 genomes]
rs6509016	0.96[ASN][1000 genomes]
rs6509017	0.96[ASN][1000 genomes]
rs6509020	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7247618	0.91[ASN][1000 genomes]
rs7248042	0.87[ASN][1000 genomes]
rs7248297	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7249411	0.87[ASN][1000 genomes]
rs7253056	0.83[EUR][1000 genomes]
rs7253209	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73562329	0.81[ASN][1000 genomes]
rs8102519	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103285	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103891	0.96[ASN][1000 genomes]
rs8106083	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8106570	0.96[ASN][1000 genomes]
rs8107152	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108816	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8108844	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8110766	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8110917	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8112156	0.83[EUR][1000 genomes]
rs851298	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs851301	0.96[ASN][1000 genomes]
rs851302	0.96[ASN][1000 genomes]
rs9304604	0.83[EUR][1000 genomes];0.91[ASN][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43003200-43030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr19:43013800-43032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:43015600-43030800	Weak transcription	Left Ventricle	heart
4	chr19:43016000-43032400	Weak transcription	Brain Anterior Caudate	brain
5	chr19:43016600-43031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:43017400-43031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:43023200-43032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:43023600-43031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:43023600-43032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:43023600-43033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:43025600-43032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:43025600-43032400	Weak transcription	Right Ventricle	heart
13	chr19:43026200-43032800	Weak transcription	Fetal Stomach	stomach
14	chr19:43028200-43032400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:43028400-43031400	Transcr. at gene 5' and 3'	HepG2	liver
16	chr19:43028400-43032000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:43028600-43032200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr19:43028800-43030600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:43028800-43030800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:43028800-43031800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:43028800-43032000	Weak transcription	GM12878-XiMat	blood
22	chr19:43028800-43032400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr19:43029000-43030600	Weak transcription	Primary B cells from cord blood	blood
24	chr19:43029000-43030600	Enhancers	Fetal Intestine Large	intestine
25	chr19:43029000-43031000	Weak transcription	Spleen	Spleen
26	chr19:43029000-43031800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:43029000-43031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:43029000-43032400	Active TSS	Colonic Mucosa	Colon
29	chr19:43029200-43030800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr19:43029200-43031400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:43029200-43032000	Weak transcription	Gastric	stomach
32	chr19:43029200-43032200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr19:43029200-43032400	Enhancers	Stomach Mucosa	stomach
34	chr19:43029600-43030600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr19:43029800-43030800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:43029800-43031800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr19:43030000-43032000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr19:43030400-43030600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr19:43030400-43030600	Flanking Active TSS	Small Intestine	intestine
40	chr19:43030400-43030800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:43030400-43030800	Transcr. at gene 5' and 3'	Liver	Liver
42	chr19:43030400-43031000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:43030400-43031000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
44	chr19:43030400-43031200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:43030400-43031400	Enhancers	Adipose Nuclei	Adipose
46	chr19:43030400-43031600	Enhancers	Primary T cells from cord blood	blood
47	chr19:43030400-43031600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr19:43030400-43031800	Enhancers	Lung	lung
49	chr19:43030400-43032400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr19:43030400-43032400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links