Variant report

Variant	rs2385802
Chromosome Location	chr19:36897691-36897692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12461529	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12462725	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17206379	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2271842	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2857	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945955	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945956	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967508	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967511	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967514	0.84[AFR][1000 genomes]
rs2967519	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098393	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3111556	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3810326	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56378871	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61706074	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62112567	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62112568	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62112569	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62112624	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62112631	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62112632	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62113869	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253122	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73043845	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73043902	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8104241	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2385802	ZNF545	Cis_1M	lymphoblastoid	RTeQTL
rs2385802	LINC00665	cis	Muscle Skeletal	GTEx
rs2385802	LINC00665	cis	Skin Sun Exposed Lower leg	GTEx
rs2385802	LINC00665	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36880400-36904600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:36882200-36908800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36882400-36907600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:36882600-36904200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36883000-36905200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr19:36885600-36908000	Weak transcription	K562	blood
7	chr19:36886400-36901000	Weak transcription	Stomach Mucosa	stomach
8	chr19:36886600-36898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:36888400-36901200	Strong transcription	Brain Hippocampus Middle	brain
10	chr19:36889600-36900200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr19:36889800-36908200	Weak transcription	HepG2	liver
12	chr19:36890400-36901400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:36891000-36904800	Strong transcription	Dnd41	blood
14	chr19:36891200-36898000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:36891200-36901400	ZNF genes & repeats	A549	lung
16	chr19:36891400-36900200	Strong transcription	Fetal Muscle Leg	muscle
17	chr19:36891800-36898800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:36891800-36908200	Weak transcription	Fetal Heart	heart
19	chr19:36891800-36908200	Weak transcription	Hela-S3	cervix
20	chr19:36892400-36898600	Weak transcription	NHEK	skin
21	chr19:36892400-36899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:36892400-36901400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:36892400-36901600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:36892800-36898800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr19:36892800-36899400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:36893200-36898800	Strong transcription	Fetal Lung	lung
27	chr19:36893400-36899000	Strong transcription	Adipose Nuclei	Adipose
28	chr19:36894200-36899400	Strong transcription	Fetal Stomach	stomach
29	chr19:36894400-36898000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr19:36894400-36899800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:36894400-36900000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:36894400-36900800	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr19:36894400-36901000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr19:36894400-36901200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr19:36894400-36901400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:36894400-36901600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr19:36894400-36902600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:36894600-36900400	Strong transcription	Osteobl	bone
39	chr19:36894600-36900800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:36894600-36900800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:36894600-36901000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:36894600-36901200	Strong transcription	NHDF-Ad	bronchial
43	chr19:36894800-36897800	ZNF genes & repeats	Liver	Liver
44	chr19:36894800-36898800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:36894800-36899800	Strong transcription	Fetal Kidney	kidney
46	chr19:36894800-36900600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:36894800-36901000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:36894800-36901200	Strong transcription	Colon Smooth Muscle	Colon
49	chr19:36895000-36898000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:36895000-36898400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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