Variant report

Variant	rs8101134
Chromosome Location	chr19:40048200-40048201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13346478	1.00[EUR][1000 genomes]
rs16973573	1.00[EUR][1000 genomes]
rs58949744	1.00[AMR][1000 genomes]
rs60839689	1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61124676	1.00[AMR][1000 genomes]
rs7247534	1.00[EUR][1000 genomes]
rs7254051	1.00[EUR][1000 genomes]
rs73546080	1.00[AMR][1000 genomes]
rs73547904	1.00[AMR][1000 genomes]
rs73547972	1.00[AMR][1000 genomes]
rs73551806	1.00[EUR][1000 genomes]
rs73551815	1.00[EUR][1000 genomes]
rs73551844	1.00[EUR][1000 genomes]
rs73553808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553812	1.00[AMR][1000 genomes]
rs73553822	1.00[AMR][1000 genomes]
rs73553830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553835	1.00[AMR][1000 genomes]
rs73553853	1.00[AMR][1000 genomes]
rs9676712	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40031200-40049600	Weak transcription	Right Atrium	heart
2	chr19:40041200-40048200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:40043000-40048200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:40043600-40048200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr19:40044000-40048200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:40044200-40048400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:40044200-40049600	Weak transcription	Spleen	Spleen
8	chr19:40046200-40050800	Enhancers	Placenta	Placenta
9	chr19:40047000-40048400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:40047200-40048200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:40047400-40048800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:40047600-40050000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:40047600-40050000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr19:40047800-40048200	Enhancers	GM12878-XiMat	blood
15	chr19:40048000-40048200	Active TSS	Colon Smooth Muscle	Colon
16	chr19:40048000-40048400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40048000-40048400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr19:40048000-40048400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:40048000-40048400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr19:40048000-40048400	Enhancers	HepG2	liver
21	chr19:40048000-40048600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr19:40048000-40049000	Enhancers	A549	lung
23	chr19:40048000-40049600	Enhancers	Stomach Mucosa	stomach
24	chr19:40048000-40049800	Enhancers	Fetal Thymus	thymus
25	chr19:40048200-40048400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr19:40048200-40048400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr19:40048200-40048400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:40048200-40048400	Enhancers	Hela-S3	cervix
29	chr19:40048200-40048600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:40048200-40048600	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr19:40048200-40048800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr19:40048200-40048800	Enhancers	Liver	Liver
33	chr19:40048200-40049600	Enhancers	Rectal Smooth Muscle	rectum
34	chr19:40048200-40049800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:40048200-40050000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr19:40048200-40050000	Flanking Active TSS	GM12878-XiMat	blood

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