Variant report

Variant	rs332854
Chromosome Location	chr19:38667386-38667387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10414253	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10460171	0.87[EUR][1000 genomes]
rs11083447	0.86[EUR][1000 genomes]
rs12460188	0.87[EUR][1000 genomes]
rs12975576	0.87[EUR][1000 genomes]
rs12984016	0.87[EUR][1000 genomes]
rs12984864	0.87[EUR][1000 genomes]
rs12985707	0.84[EUR][1000 genomes]
rs1545039	0.87[EUR][1000 genomes]
rs1962866	0.85[EUR][1000 genomes]
rs2010234	0.85[EUR][1000 genomes]
rs2016074	0.86[EUR][1000 genomes]
rs2116862	0.85[EUR][1000 genomes]
rs2163817	0.82[EUR][1000 genomes]
rs2304132	0.87[EUR][1000 genomes]
rs2382972	0.83[EUR][1000 genomes]
rs2382973	0.81[EUR][1000 genomes]
rs2569413	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2569517	0.88[EUR][1000 genomes]
rs332841	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332845	0.87[EUR][1000 genomes]
rs332846	0.87[EUR][1000 genomes]
rs332852	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs332853	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs332857	0.90[EUR][1000 genomes]
rs332859	0.89[EUR][1000 genomes]
rs332861	0.88[EUR][1000 genomes]
rs332862	0.82[EUR][1000 genomes]
rs332863	0.85[EUR][1000 genomes]
rs34646932	0.87[EUR][1000 genomes]
rs35467693	0.86[EUR][1000 genomes]
rs35469521	0.85[EUR][1000 genomes]
rs35972455	0.83[EUR][1000 genomes]
rs3852910	0.84[EUR][1000 genomes]
rs3852911	0.84[EUR][1000 genomes]
rs4802248	0.87[EUR][1000 genomes]
rs4803805	0.86[EUR][1000 genomes]
rs4803808	0.87[EUR][1000 genomes]
rs62123462	0.81[EUR][1000 genomes]
rs67910767	0.85[EUR][1000 genomes]
rs71337549	0.85[EUR][1000 genomes]
rs7253312	0.84[EUR][1000 genomes]
rs7253633	0.84[EUR][1000 genomes]
rs7258019	0.81[EUR][1000 genomes]
rs8100956	0.86[EUR][1000 genomes]
rs8107385	0.87[EUR][1000 genomes]
rs855617	0.84[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38653600-38668600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr19:38653600-38696400	Weak transcription	Small Intestine	intestine
3	chr19:38653800-38670800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:38655200-38669400	Weak transcription	Fetal Lung	lung
5	chr19:38656200-38675200	Weak transcription	Stomach Mucosa	stomach
6	chr19:38656400-38670400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:38656400-38670400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:38656400-38670800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:38656400-38671400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:38656400-38674000	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:38656800-38669400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:38657600-38673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:38657600-38673800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:38657600-38696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:38657800-38669600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:38658400-38674000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:38658400-38684800	Weak transcription	HepG2	liver
18	chr19:38658400-38694000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:38658600-38670800	Weak transcription	Fetal Brain Female	brain
20	chr19:38658800-38669200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:38658800-38669400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:38658800-38669400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:38658800-38670400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr19:38659600-38668800	Weak transcription	Primary B cells from cord blood	blood
25	chr19:38659600-38673600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:38659600-38673600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:38659800-38669400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:38659800-38670600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:38660400-38669600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:38661000-38669400	Weak transcription	Liver	Liver
31	chr19:38661000-38673200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:38661200-38668800	Weak transcription	Thymus	Thymus
33	chr19:38661200-38669400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:38661200-38670600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:38661200-38671200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:38661200-38673600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:38661400-38669400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:38661400-38682600	Weak transcription	Aorta	Aorta
39	chr19:38661600-38670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:38661600-38671600	Weak transcription	Osteobl	bone
41	chr19:38661600-38673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:38661600-38674000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:38661800-38682400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:38663200-38673200	Weak transcription	Gastric	stomach
45	chr19:38663400-38671200	Weak transcription	Pancreas	Pancrea
46	chr19:38663600-38669400	Weak transcription	Primary T cells from cord blood	blood
47	chr19:38664400-38673200	Weak transcription	Colonic Mucosa	Colon
48	chr19:38664600-38669400	Weak transcription	Adipose Nuclei	Adipose
49	chr19:38664600-38669400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:38664600-38674000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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