Variant report

Variant	rs8110483
Chromosome Location	chr19:38012424-38012425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73617113	1.00[AMR][1000 genomes]
rs73632242	0.97[AFR][1000 genomes]
rs73632245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8110586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37998800-38014000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr19:37998800-38021000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:37998800-38022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:37999000-38013800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37999200-38018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:37999800-38012800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:38004800-38013400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:38004800-38013400	Weak transcription	Placenta	Placenta
11	chr19:38006000-38020800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:38007400-38013600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:38008800-38026600	Weak transcription	Fetal Heart	heart
14	chr19:38009000-38013400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:38009000-38013400	Weak transcription	Fetal Kidney	kidney
16	chr19:38009400-38020000	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr19:38009800-38013400	Weak transcription	Psoas Muscle	Psoas
18	chr19:38010600-38013400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:38010600-38018400	Strong transcription	Fetal Brain Female	brain
20	chr19:38010600-38020600	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:38010800-38020400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:38010800-38020800	Strong transcription	Brain Anterior Caudate	brain
23	chr19:38011000-38013400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:38011000-38020800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:38011400-38012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:38011400-38013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:38011600-38013000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:38011600-38013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:38011600-38013200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:38011600-38013200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:38011600-38013200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:38011600-38013200	Weak transcription	Left Ventricle	heart
33	chr19:38011600-38013400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:38011600-38013400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:38011600-38013400	Weak transcription	Brain Substantia Nigra	brain
36	chr19:38011600-38013400	Weak transcription	Fetal Lung	lung
37	chr19:38011600-38014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:38011600-38014000	Weak transcription	Thymus	Thymus
39	chr19:38011600-38023600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:38011800-38012800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:38011800-38012800	Weak transcription	Fetal Brain Male	brain
42	chr19:38011800-38012800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:38011800-38013000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:38011800-38013000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:38011800-38013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:38011800-38013000	Weak transcription	Adipose Nuclei	Adipose
47	chr19:38011800-38013000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:38011800-38013000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:38011800-38013200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:38011800-38013200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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