Variant report

Variant	rs4803326
Chromosome Location	chr19:40825577-40825578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12151335	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12459567	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12460555	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12460615	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12977474	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12985477	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1962639	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1991460	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304186	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2368575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33933140	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35562135	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3745195	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4479364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4490097	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4502340	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4524046	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802072	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803325	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803327	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55710016	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57158010	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58502633	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59263025	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7259273	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73046335	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7507651	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7508513	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8110323	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs890773	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
2	chr19:40800400-40826400	Weak transcription	Brain Angular Gyrus	brain
3	chr19:40802800-40828000	Weak transcription	NH-A	brain
4	chr19:40810600-40825800	Weak transcription	Adipose Nuclei	Adipose
5	chr19:40810600-40829800	Weak transcription	NHDF-Ad	bronchial
6	chr19:40810800-40826200	Weak transcription	HMEC	breast
7	chr19:40811200-40826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:40811400-40826600	Weak transcription	NHEK	skin
9	chr19:40811600-40826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:40811800-40826400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:40811800-40826600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:40811800-40826600	Weak transcription	Fetal Lung	lung
13	chr19:40811800-40831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:40815400-40832800	Weak transcription	Fetal Brain Male	brain
15	chr19:40815600-40826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:40817200-40825800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr19:40817400-40827400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:40817600-40827200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:40819200-40825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:40819200-40826800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:40819200-40834000	Weak transcription	Fetal Kidney	kidney
22	chr19:40819400-40828200	Weak transcription	Osteobl	bone
23	chr19:40819800-40826600	Weak transcription	Primary B cells from cord blood	blood
24	chr19:40819800-40826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:40820000-40827400	Weak transcription	HepG2	liver
26	chr19:40820200-40826400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:40820400-40826000	Weak transcription	Gastric	stomach
28	chr19:40820600-40826600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:40820600-40827400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:40820800-40825800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:40820800-40825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:40820800-40825800	Weak transcription	Esophagus	oesophagus
33	chr19:40820800-40825800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:40820800-40826000	Weak transcription	Fetal Intestine Large	intestine
35	chr19:40820800-40826600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:40820800-40848400	Strong transcription	Dnd41	blood
37	chr19:40821000-40825800	Weak transcription	HSMM	muscle
38	chr19:40821000-40826000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:40821200-40826000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:40821200-40831800	Weak transcription	K562	blood
41	chr19:40821400-40827200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:40821400-40827800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:40821400-40835000	Strong transcription	Fetal Intestine Small	intestine
44	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:40821600-40826000	Weak transcription	Ovary	ovary
46	chr19:40821800-40826600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:40821800-40829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:40822000-40825800	Weak transcription	Pancreas	Pancrea
49	chr19:40822000-40829200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:40822000-40833400	Weak transcription	Fetal Heart	heart

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