Variant report

Variant	rs8110904
Chromosome Location	chr19:43031369-43031370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10401178	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401428	1.00[EUR][1000 genomes]
rs10402853	0.89[AMR][1000 genomes]
rs10403065	1.00[EUR][1000 genomes]
rs10404589	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405037	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405152	0.90[YRI][hapmap]
rs10405179	0.89[AMR][1000 genomes]
rs10405410	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs10405942	1.00[EUR][1000 genomes]
rs10406227	0.89[AMR][1000 genomes]
rs10408822	0.89[AMR][1000 genomes]
rs10412074	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412173	0.89[AMR][1000 genomes]
rs10412594	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414396	0.89[AMR][1000 genomes]
rs10415284	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416108	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs10418090	0.89[AMR][1000 genomes]
rs10418997	1.00[EUR][1000 genomes]
rs10419543	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419561	1.00[EUR][1000 genomes]
rs10420773	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422191	1.00[EUR][1000 genomes]
rs10423227	0.89[AMR][1000 genomes]
rs10423370	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10424206	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs10425199	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425666	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426304	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880554	1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880876	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881583	0.90[YRI][hapmap]
rs11882225	1.00[EUR][1000 genomes]
rs11882291	0.89[AMR][1000 genomes]
rs13343840	1.00[EUR][1000 genomes]
rs13345272	1.00[EUR][1000 genomes]
rs13346522	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975787	0.89[AMR][1000 genomes]
rs16975799	0.89[YRI][hapmap]
rs16975815	0.89[AMR][1000 genomes]
rs16975862	1.00[EUR][1000 genomes]
rs2051832	1.00[EUR][1000 genomes]
rs2051833	0.83[EUR][1000 genomes]
rs28403155	0.89[AMR][1000 genomes]
rs28425201	1.00[EUR][1000 genomes]
rs28433890	0.89[AMR][1000 genomes]
rs28473486	1.00[EUR][1000 genomes]
rs28588100	1.00[EUR][1000 genomes]
rs28602626	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635141	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28660279	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41348545	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41381546	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41421250	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57018456	0.89[AMR][1000 genomes]
rs58050143	0.89[AMR][1000 genomes]
rs58162305	0.85[AMR][1000 genomes]
rs58702905	0.94[AMR][1000 genomes]
rs60747186	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61388144	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509015	1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509019	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7247278	1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248907	0.89[AMR][1000 genomes]
rs7249304	0.89[AMR][1000 genomes]
rs7250501	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253634	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255271	1.00[EUR][1000 genomes]
rs7256226	1.00[EUR][1000 genomes]
rs7256850	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7259335	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558492	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558498	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73560408	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101378	0.89[AMR][1000 genomes]
rs8105525	1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106836	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107720	0.89[AMR][1000 genomes]
rs8108992	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110922	0.89[AMR][1000 genomes]
rs8111171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111468	0.84[AMR][1000 genomes]
rs8112593	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112915	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113154	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749434	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9916999	0.89[AMR][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43013800-43032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:43016000-43032400	Weak transcription	Brain Anterior Caudate	brain
3	chr19:43016600-43031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:43017400-43031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:43023200-43032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:43023600-43031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:43023600-43032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:43023600-43033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:43025600-43032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:43025600-43032400	Weak transcription	Right Ventricle	heart
11	chr19:43026200-43032800	Weak transcription	Fetal Stomach	stomach
12	chr19:43028200-43032400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:43028400-43031400	Transcr. at gene 5' and 3'	HepG2	liver
14	chr19:43028400-43032000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:43028600-43032200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr19:43028800-43031800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:43028800-43032000	Weak transcription	GM12878-XiMat	blood
18	chr19:43028800-43032400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:43029000-43031800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:43029000-43031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:43029000-43032400	Active TSS	Colonic Mucosa	Colon
22	chr19:43029200-43031400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:43029200-43032000	Weak transcription	Gastric	stomach
24	chr19:43029200-43032200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr19:43029200-43032400	Enhancers	Stomach Mucosa	stomach
26	chr19:43029800-43031800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr19:43030000-43032000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:43030400-43031400	Enhancers	Adipose Nuclei	Adipose
29	chr19:43030400-43031600	Enhancers	Primary T cells from cord blood	blood
30	chr19:43030400-43031600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr19:43030400-43031800	Enhancers	Lung	lung
32	chr19:43030400-43032400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr19:43030400-43032400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:43030400-43033000	Active TSS	Esophagus	oesophagus
35	chr19:43030400-43033000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr19:43030400-43033400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr19:43030400-43033600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr19:43030400-43033600	Active TSS	Rectal Smooth Muscle	rectum
39	chr19:43030600-43032000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr19:43030600-43032200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr19:43030800-43031400	Genic enhancers	Liver	Liver
42	chr19:43030800-43031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:43030800-43031800	Enhancers	Fetal Intestine Large	intestine
44	chr19:43030800-43032000	Weak transcription	A549	lung
45	chr19:43030800-43032400	Enhancers	Primary B cells from peripheral blood	blood
46	chr19:43030800-43032400	Enhancers	Primary hematopoietic stem cells	blood
47	chr19:43030800-43032400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:43030800-43032800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:43031000-43031600	Active TSS	Primary B cells from cord blood	blood
50	chr19:43031000-43031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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