Variant report

Variant	rs7253634
Chromosome Location	chr19:43009119-43009120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10401178	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401428	1.00[EUR][1000 genomes]
rs10402245	1.00[TSI][hapmap]
rs10402853	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10403065	1.00[EUR][1000 genomes]
rs10404589	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405037	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405152	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs10405179	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10405410	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs10405942	1.00[EUR][1000 genomes]
rs10406227	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412173	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10412594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414396	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415284	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416108	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10418090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418997	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10419543	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419561	1.00[EUR][1000 genomes]
rs10420773	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422191	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423227	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423370	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10424206	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs10425199	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426304	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878991	1.00[CEU][hapmap]
rs11880554	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880876	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881583	1.00[CEU][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs11882225	1.00[EUR][1000 genomes]
rs11882291	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882701	0.84[AFR][1000 genomes]
rs11883406	1.00[CEU][hapmap]
rs11883425	1.00[CEU][hapmap]
rs13343840	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13345272	1.00[EUR][1000 genomes]
rs13345659	1.00[TSI][hapmap]
rs13346522	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975750	1.00[TSI][hapmap]
rs16975787	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975799	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs16975815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975862	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2051832	1.00[EUR][1000 genomes]
rs2051833	0.83[EUR][1000 genomes]
rs28403155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28425201	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28433890	1.00[AMR][1000 genomes]
rs28473486	1.00[EUR][1000 genomes]
rs28588100	1.00[EUR][1000 genomes]
rs28602626	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635141	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28660279	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41348545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41381546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41421250	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57018456	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58050143	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58162305	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs58702905	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs60747186	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61388144	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509015	0.87[ASW][hapmap];1.00[CEU][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509019	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7245385	1.00[TSI][hapmap]
rs7246161	1.00[CEU][hapmap]
rs7246591	1.00[CEU][hapmap]
rs7247278	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7251638	1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs7252874	0.84[AFR][1000 genomes]
rs7255271	1.00[EUR][1000 genomes]
rs7256226	1.00[EUR][1000 genomes]
rs7256850	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258854	1.00[CEU][hapmap]
rs7259335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558492	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558498	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73560408	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8104731	0.84[AFR][1000 genomes]
rs8105525	0.93[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106836	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108992	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109086	0.93[AFR][1000 genomes]
rs8110904	1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8111171	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111468	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8112593	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112915	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113154	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113448	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749434	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9916999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917002	0.84[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43001800-43009400	Weak transcription	Aorta	Aorta
2	chr19:43002200-43015000	Weak transcription	Spleen	Spleen
3	chr19:43002200-43025200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:43002400-43022400	Weak transcription	Lung	lung
5	chr19:43002600-43010200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:43002800-43014800	Weak transcription	Adipose Nuclei	Adipose
7	chr19:43002800-43014800	Weak transcription	Left Ventricle	heart
8	chr19:43002800-43023000	Weak transcription	Gastric	stomach
9	chr19:43003000-43013400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:43003200-43014600	Weak transcription	Primary B cells from cord blood	blood
11	chr19:43003200-43030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr19:43003400-43009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:43003400-43012800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:43003400-43014600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:43003400-43015200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:43003400-43019000	Weak transcription	Placenta	Placenta
17	chr19:43003400-43028400	Weak transcription	Esophagus	oesophagus
18	chr19:43003400-43029400	Weak transcription	Small Intestine	intestine
19	chr19:43003600-43011800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:43003600-43012200	Weak transcription	Liver	Liver
21	chr19:43003600-43012600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:43003600-43013000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr19:43003600-43015000	Weak transcription	Colonic Mucosa	Colon
24	chr19:43003600-43015600	Weak transcription	Brain Anterior Caudate	brain
25	chr19:43003800-43015000	Weak transcription	Fetal Intestine Small	intestine
26	chr19:43004000-43014600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:43004600-43015000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:43004800-43012800	Weak transcription	Fetal Intestine Large	intestine
29	chr19:43006200-43029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:43006400-43014600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:43006800-43013000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:43008000-43014600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:43008600-43011200	Enhancers	HepG2	liver
34	chr19:43009000-43009400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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