Variant report

Variant	rs7259321
Chromosome Location	chr19:38016602-38016603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10153500	0.82[AMR][1000 genomes]
rs11083424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11879149	0.82[AMR][1000 genomes]
rs11880604	0.82[AMR][1000 genomes]
rs2112921	0.97[EUR][1000 genomes]
rs2305115	0.90[EUR][1000 genomes]
rs2921563	0.90[EUR][1000 genomes]
rs2972597	0.90[EUR][1000 genomes]
rs2972598	0.90[EUR][1000 genomes]
rs45505797	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56743641	0.90[EUR][1000 genomes]
rs56917663	0.97[EUR][1000 genomes]
rs59957425	0.90[EUR][1000 genomes]
rs60159855	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60686304	0.82[AMR][1000 genomes]
rs61290534	0.83[EUR][1000 genomes]
rs62108260	0.82[AMR][1000 genomes]
rs62108262	0.82[AMR][1000 genomes]
rs62108289	0.82[AMR][1000 genomes]
rs62111488	0.82[AMR][1000 genomes]
rs62111490	0.82[AMR][1000 genomes]
rs6508718	0.83[EUR][1000 genomes]
rs6508720	0.82[EUR][1000 genomes]
rs7247654	0.90[EUR][1000 genomes]
rs7254780	0.90[EUR][1000 genomes]
rs7255938	0.90[EUR][1000 genomes]
rs7258992	0.82[AMR][1000 genomes]
rs7259029	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7259717	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73930999	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8100308	0.93[EUR][1000 genomes]
rs8101991	0.82[AMR][1000 genomes]
rs8109806	0.97[EUR][1000 genomes]
rs8110164	0.90[EUR][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	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37998800-38021000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:37998800-38022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37999200-38018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:38006000-38020800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:38008800-38026600	Weak transcription	Fetal Heart	heart
8	chr19:38009400-38020000	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr19:38010600-38018400	Strong transcription	Fetal Brain Female	brain
10	chr19:38010600-38020600	Strong transcription	Fetal Muscle Leg	muscle
11	chr19:38010800-38020400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:38010800-38020800	Strong transcription	Brain Anterior Caudate	brain
13	chr19:38011000-38020800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr19:38011600-38023600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:38012800-38020800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr19:38013000-38017600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr19:38013000-38017800	ZNF genes & repeats	Ovary	ovary
18	chr19:38013200-38018000	ZNF genes & repeats	Fetal Stomach	stomach
19	chr19:38013200-38019600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:38013200-38020400	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr19:38013200-38020800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:38013200-38020800	Strong transcription	Brain Cingulate Gyrus	brain
23	chr19:38013400-38017000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:38013400-38017600	Strong transcription	Brain Angular Gyrus	brain
25	chr19:38013400-38017800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr19:38013400-38018200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:38013400-38020600	ZNF genes & repeats	Liver	Liver
28	chr19:38013400-38020800	Strong transcription	Brain Germinal Matrix	brain
29	chr19:38013400-38020800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr19:38013800-38018000	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr19:38013800-38019200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:38014200-38017400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:38014200-38017600	Strong transcription	Fetal Lung	lung
34	chr19:38014400-38017400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:38014600-38017400	Weak transcription	Placenta	Placenta
36	chr19:38014600-38018400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:38014800-38016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:38014800-38016800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:38014800-38016800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:38014800-38017400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:38014800-38017400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr19:38014800-38019400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:38014800-38019600	Weak transcription	Fetal Brain Male	brain
44	chr19:38014800-38024000	Weak transcription	Stomach Mucosa	stomach
45	chr19:38015200-38017400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:38015400-38017600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:38015600-38016800	Weak transcription	Right Ventricle	heart
48	chr19:38015600-38019400	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:38015800-38016800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:38015800-38017200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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