Variant report

Variant	rs16973488
Chromosome Location	chr19:38018545-38018546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11667497	1.00[ASN][1000 genomes]
rs11667866	1.00[ASN][1000 genomes]
rs11668217	1.00[ASN][1000 genomes]
rs11669502	1.00[ASN][1000 genomes]
rs11671051	1.00[EUR][1000 genomes]
rs11671057	1.00[ASN][1000 genomes]
rs11671510	1.00[ASN][1000 genomes]
rs11672064	1.00[ASN][1000 genomes]
rs11672330	1.00[ASN][1000 genomes]
rs56822639	1.00[ASN][1000 genomes]
rs6508730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508731	1.00[ASN][1000 genomes]
rs7245717	1.00[ASN][1000 genomes]
rs7246762	1.00[ASN][1000 genomes]
rs7257174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103087	1.00[ASN][1000 genomes]
rs8104809	1.00[ASN][1000 genomes]
rs8108658	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108739	1.00[ASN][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:71 , 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	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:38006000-38020800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:38008800-38026600	Weak transcription	Fetal Heart	heart
7	chr19:38009400-38020000	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr19:38010600-38020600	Strong transcription	Fetal Muscle Leg	muscle
9	chr19:38010800-38020400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:38010800-38020800	Strong transcription	Brain Anterior Caudate	brain
11	chr19:38011000-38020800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr19:38011600-38023600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:38012800-38020800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:38013200-38019600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:38013200-38020400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr19:38013200-38020800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:38013200-38020800	Strong transcription	Brain Cingulate Gyrus	brain
18	chr19:38013400-38020600	ZNF genes & repeats	Liver	Liver
19	chr19:38013400-38020800	Strong transcription	Brain Germinal Matrix	brain
20	chr19:38013400-38020800	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr19:38013800-38019200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:38014800-38019400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:38014800-38019600	Weak transcription	Fetal Brain Male	brain
24	chr19:38014800-38024000	Weak transcription	Stomach Mucosa	stomach
25	chr19:38015600-38019400	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:38015800-38019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:38015800-38020000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:38015800-38022600	Weak transcription	Fetal Kidney	kidney
29	chr19:38016000-38019200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:38016000-38019200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:38016000-38019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:38016000-38019800	Weak transcription	Psoas Muscle	Psoas
33	chr19:38016000-38021200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
34	chr19:38016000-38022000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:38016400-38020400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:38016600-38019400	Strong transcription	Left Ventricle	heart
37	chr19:38016600-38020600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:38016600-38020800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:38016600-38021000	ZNF genes & repeats	Aorta	Aorta
40	chr19:38017000-38019000	Weak transcription	Primary B cells from cord blood	blood
41	chr19:38017400-38018800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:38017400-38020400	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr19:38017400-38021600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:38017400-38028800	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr19:38017600-38019200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:38017600-38019200	Weak transcription	Brain Angular Gyrus	brain
47	chr19:38017600-38019200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:38017600-38020400	Strong transcription	Brain Substantia Nigra	brain
49	chr19:38017600-38022400	Weak transcription	Fetal Lung	lung
50	chr19:38017800-38019000	Weak transcription	Spleen	Spleen

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