Variant report

Variant	rs9749434
Chromosome Location	chr19:43034329-43034330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10401178	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401428	1.00[EUR][1000 genomes]
rs10402853	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10403065	1.00[EUR][1000 genomes]
rs10404589	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405037	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405152	0.81[AFR][1000 genomes]
rs10405179	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10405410	1.00[EUR][1000 genomes]
rs10405942	1.00[EUR][1000 genomes]
rs10406227	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10408822	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10412074	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412173	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10412594	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414396	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10415284	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416108	1.00[EUR][1000 genomes]
rs10418090	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10418997	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10419543	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419561	1.00[EUR][1000 genomes]
rs10420773	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422191	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423227	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10423370	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10424206	1.00[EUR][1000 genomes]
rs10425199	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425666	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426304	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880876	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882225	1.00[EUR][1000 genomes]
rs11882291	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11882701	0.83[AFR][1000 genomes]
rs13343840	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13345272	1.00[EUR][1000 genomes]
rs13346522	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975787	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16975799	0.83[AFR][1000 genomes]
rs16975815	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16975862	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2051832	1.00[EUR][1000 genomes]
rs2051833	0.83[EUR][1000 genomes]
rs28403155	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs28425201	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28433890	0.95[AMR][1000 genomes]
rs28473486	1.00[EUR][1000 genomes]
rs28588100	1.00[EUR][1000 genomes]
rs28602626	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635141	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28660279	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41348545	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41381546	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41421250	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57018456	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs58050143	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs58162305	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58702905	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60747186	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61388144	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509015	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509019	1.00[EUR][1000 genomes]
rs7247278	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248907	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7249304	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7250501	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252874	0.83[AFR][1000 genomes]
rs7253634	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255271	1.00[EUR][1000 genomes]
rs7256226	1.00[EUR][1000 genomes]
rs7256850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7259335	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558492	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558498	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73560408	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101378	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8104731	0.83[AFR][1000 genomes]
rs8105525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107720	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8108992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109086	0.91[AFR][1000 genomes]
rs8110904	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110922	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8111171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111468	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8112593	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112915	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113154	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113448	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9916999	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs9917002	0.83[AFR][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43033600-43035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:43033600-43035400	Weak transcription	HMEC	breast
3	chr19:43033600-43035600	Weak transcription	Esophagus	oesophagus
4	chr19:43033600-43036200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:43033600-43037000	Weak transcription	Spleen	Spleen
6	chr19:43033600-43038400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:43033600-43043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:43033600-43043800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:43033600-43044200	Weak transcription	Gastric	stomach
10	chr19:43033800-43035400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:43033800-43037000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:43033800-43037600	Weak transcription	Liver	Liver
13	chr19:43033800-43038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:43033800-43038600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:43033800-43039200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:43033800-43040000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:43033800-43043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:43033800-43044200	Weak transcription	Brain Substantia Nigra	brain
19	chr19:43034000-43035000	Weak transcription	HepG2	liver
20	chr19:43034000-43037000	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:43034000-43038400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:43034000-43038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:43034000-43038600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:43034000-43039800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:43034000-43043000	Weak transcription	Adipose Nuclei	Adipose
26	chr19:43034200-43035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:43034200-43038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:43034200-43038400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr19:43034200-43038400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:43034200-43043600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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