Variant report

Variant	rs8110848
Chromosome Location	chr19:21336829-21336830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10406253	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407190	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10408496	0.87[ASN][1000 genomes]
rs10854042	0.87[ASN][1000 genomes]
rs11668640	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12980860	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1864208	0.87[ASN][1000 genomes]
rs1975056	0.84[ASN][1000 genomes]
rs2115498	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2358806	0.90[ASN][1000 genomes]
rs2358807	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4324267	0.84[ASN][1000 genomes]
rs6511202	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6511204	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511205	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7250987	0.87[ASN][1000 genomes]
rs7251158	0.90[ASN][1000 genomes]
rs7251646	0.90[ASN][1000 genomes]
rs7256576	0.90[ASN][1000 genomes]
rs7258575	0.80[AFR][1000 genomes]
rs8101918	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
2	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:21326000-21337000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:21326000-21338400	Weak transcription	Aorta	Aorta
5	chr19:21326000-21352600	Weak transcription	Right Ventricle	heart
6	chr19:21326000-21361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:21326200-21337000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21326600-21337000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:21326800-21361800	Weak transcription	Stomach Mucosa	stomach
10	chr19:21327000-21337000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:21327000-21342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:21327000-21347000	Weak transcription	Hela-S3	cervix
13	chr19:21327600-21337000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:21328200-21337000	ZNF genes & repeats	Fetal Brain Female	brain
15	chr19:21331000-21371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:21331200-21340000	Weak transcription	NHLF	lung
17	chr19:21332200-21337000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:21332200-21341400	Weak transcription	Osteobl	bone
19	chr19:21332400-21337000	Strong transcription	Primary T cells from cord blood	blood
20	chr19:21332400-21337200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:21332600-21337000	Strong transcription	Fetal Intestine Large	intestine
22	chr19:21332600-21337000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:21332800-21356400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:21333000-21337000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:21333000-21337000	Strong transcription	Thymus	Thymus
26	chr19:21333000-21350000	Weak transcription	Fetal Kidney	kidney
27	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:21333200-21337000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:21333200-21338800	Weak transcription	HepG2	liver
30	chr19:21333200-21341600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:21333200-21347000	Weak transcription	Gastric	stomach
32	chr19:21333200-21357400	Weak transcription	Pancreas	Pancrea
33	chr19:21333400-21338600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:21333400-21364800	Weak transcription	HUVEC	blood vessel
35	chr19:21333600-21337000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:21334000-21344400	Weak transcription	Spleen	Spleen
37	chr19:21334400-21337000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr19:21334600-21338600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:21334600-21360800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:21335000-21365000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:21335200-21338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:21335200-21338600	Weak transcription	Colonic Mucosa	Colon
43	chr19:21335400-21337000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:21335400-21338400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:21335600-21337000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:21335600-21337000	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr19:21335600-21338400	Weak transcription	Fetal Stomach	stomach
48	chr19:21335600-21339000	Weak transcription	NHDF-Ad	bronchial
49	chr19:21335800-21337000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr19:21335800-21338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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