Variant report

Variant	rs11882871
Chromosome Location	chr19:39737610-39737611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:39737594-39738071	ECC-1	luminal epithelium:	n/a	chr19:39737761-39737771
2	E2F6	chr19:39737576-39739065	H1-hESC	embryonic stem cell:	n/a	chr19:39738397-39738407 chr19:39737917-39737926 chr19:39738538-39738550 chr19:39737763-39737772 chr19:39738396-39738406 chr19:39738322-39738331
3	MAX	chr19:39737583-39738022	ECC-1	luminal epithelium:	n/a	chr19:39737761-39737771
4	MAX	chr19:39737606-39738299	H1-hESC	embryonic stem cell:	n/a	chr19:39737761-39737771
5	E2F6	chr19:39737605-39738752	H1-hESC	embryonic stem cell:	n/a	chr19:39738397-39738407 chr19:39737917-39737926 chr19:39738538-39738550 chr19:39737763-39737772 chr19:39738396-39738406 chr19:39738322-39738331
6	MAX	chr19:39737598-39738705	H1-hESC	embryonic stem cell:	n/a	chr19:39738465-39738475 chr19:39738466-39738475 chr19:39738465-39738475 chr19:39738464-39738477 chr19:39737761-39737771 chr19:39738465-39738476

Variant related genes	Relation type
IFNL3	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11881222	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12971396	0.97[ASN][1000 genomes]
rs12979860	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12980275	0.88[ASN][1000 genomes]
rs12982533	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12983038	0.97[ASN][1000 genomes]
rs28416813	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4803217	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803221	0.97[ASN][1000 genomes]
rs4803222	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66531907	0.97[ASN][1000 genomes]
rs68018539	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248668	0.94[ASN][1000 genomes]
rs8099917	0.94[ASN][1000 genomes]
rs8105086	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8105790	0.94[ASN][1000 genomes]
rs8107030	0.97[ASN][1000 genomes]
rs8109886	0.90[ASN][1000 genomes]
rs8109889	0.94[ASN][1000 genomes]
rs8113007	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs958039	0.84[EUR][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	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911678	chr19:39710903-39763765	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1796501	chr19:39723520-39740868	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
6	nsv963046	chr19:39735570-39739516	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39729000-39738000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:39737400-39738000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:39737600-39737800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr19:39737600-39737800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:39737600-39737800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:39737600-39737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:39737600-39737800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:39737600-39737800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:39737600-39737800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:39737600-39737800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
11	chr19:39737600-39737800	Bivalent Enhancer	Brain Hippocampus Middle	brain
12	chr19:39737600-39737800	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr19:39737600-39737800	Enhancers	Right Atrium	heart
14	chr19:39737600-39738000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr19:39737600-39738000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:39737600-39738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:39737600-39738000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
18	chr19:39737600-39738000	Enhancers	Ovary	ovary
19	chr19:39737600-39738000	Active TSS	Right Ventricle	heart
20	chr19:39737600-39738200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr19:39737600-39738400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:39737600-39738400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
23	chr19:39737600-39738400	Bivalent Enhancer	Left Ventricle	heart
24	chr19:39737600-39738600	Enhancers	Primary B cells from cord blood	blood
25	chr19:39737600-39738600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr19:39737600-39738600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr19:39737600-39738800	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:39737600-39738800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
29	chr19:39737600-39738800	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr19:39737600-39738800	Bivalent Enhancer	Fetal Thymus	thymus
31	chr19:39737600-39739000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr19:39737600-39739000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr19:39737600-39739000	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr19:39737600-39739000	Enhancers	Gastric	stomach
35	chr19:39737600-39739000	Bivalent Enhancer	Lung	lung
36	chr19:39737600-39739000	Bivalent Enhancer	Spleen	Spleen
37	chr19:39737600-39739000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr19:39737600-39739200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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