Variant report

Variant	rs1543923
Chromosome Location	chr19:52085291-52085292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11665668	1.00[CHB][hapmap]
rs12977262	1.00[CHB][hapmap]
rs3826666	1.00[CHB][hapmap]
rs4507016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4802815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4802818	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs6509553	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6509554	0.91[CEU][hapmap]
rs6509555	0.83[CEU][hapmap]
rs8108074	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52075400-52087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:52075400-52090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:52075600-52089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:52075800-52090000	Weak transcription	Stomach Mucosa	stomach
5	chr19:52075800-52096800	Weak transcription	HepG2	liver
6	chr19:52076200-52088200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr19:52076400-52086800	Strong transcription	Primary T cells from cord blood	blood
8	chr19:52076400-52087000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:52076400-52088800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:52076800-52087400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:52076800-52089400	Weak transcription	HMEC	breast
12	chr19:52077000-52088800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:52077000-52089600	Weak transcription	Small Intestine	intestine
14	chr19:52077000-52097000	Weak transcription	Hela-S3	cervix
15	chr19:52077200-52089400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:52077600-52087400	Strong transcription	Osteobl	bone
17	chr19:52078200-52089600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:52078400-52087400	Strong transcription	Dnd41	blood
19	chr19:52078600-52088200	Weak transcription	Fetal Intestine Small	intestine
20	chr19:52078800-52087000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr19:52079000-52089200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:52079200-52087600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:52080600-52086400	Weak transcription	NHDF-Ad	bronchial
24	chr19:52081200-52088200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr19:52081400-52088800	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr19:52081400-52089000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr19:52081400-52091000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:52081600-52088800	Strong transcription	Ovary	ovary
29	chr19:52081600-52089400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr19:52081600-52089400	Strong transcription	HSMM	muscle
31	chr19:52081600-52089600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr19:52081600-52089600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:52081600-52092000	ZNF genes & repeats	Liver	Liver
34	chr19:52081800-52088000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:52082200-52086600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:52082200-52090000	Strong transcription	Placenta	Placenta
37	chr19:52082400-52089200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:52082600-52088000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:52082800-52086600	Strong transcription	K562	blood
40	chr19:52082800-52089600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr19:52083400-52085600	Strong transcription	Rectal Smooth Muscle	rectum
42	chr19:52083400-52087600	Strong transcription	Primary B cells from cord blood	blood
43	chr19:52083400-52088600	Strong transcription	HUVEC	blood vessel
44	chr19:52083600-52085400	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr19:52083600-52085600	Strong transcription	Aorta	Aorta
46	chr19:52083600-52085600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr19:52083600-52086400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:52083600-52087800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:52083600-52088400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr19:52083600-52089200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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