Variant report

Variant	rs3941830
Chromosome Location	chr19:21786682-21786683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21776789..21778695-chr19:21784881..21786729,2	K562	blood:

Variant related genes	Relation type
ENSG00000268240	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12150872	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12150881	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62110252	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7257069	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8101011	0.84[AFR][1000 genomes]
rs8108399	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv911423	chr19:21783995-21858994	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21783600-21787000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:21784600-21787200	Enhancers	Fetal Intestine Large	intestine
3	chr19:21784800-21788400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:21785000-21787000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:21785000-21787000	Enhancers	Ovary	ovary
6	chr19:21785400-21787000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:21785400-21787000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:21785400-21787000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr19:21785400-21788200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:21785800-21786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr19:21785800-21786800	Enhancers	Fetal Lung	lung
12	chr19:21785800-21787000	Enhancers	Fetal Intestine Small	intestine
13	chr19:21785800-21787000	Enhancers	Pancreas	Pancrea
14	chr19:21786000-21786800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr19:21786000-21787000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr19:21786000-21787000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr19:21786000-21787000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr19:21786000-21787000	Enhancers	Brain Germinal Matrix	brain
19	chr19:21786000-21788000	Flanking Active TSS	K562	blood
20	chr19:21786000-21788200	Flanking Active TSS	Dnd41	blood
21	chr19:21786200-21786800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:21786200-21786800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr19:21786200-21786800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr19:21786200-21786800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr19:21786200-21786800	Enhancers	Brain Cingulate Gyrus	brain
26	chr19:21786200-21786800	Enhancers	Left Ventricle	heart
27	chr19:21786200-21786800	Enhancers	Thymus	Thymus
28	chr19:21786200-21787000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr19:21786200-21787000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:21786200-21787000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:21786200-21787000	Enhancers	Fetal Muscle Trunk	muscle
32	chr19:21786200-21787000	Enhancers	Fetal Muscle Leg	muscle
33	chr19:21786200-21787000	Enhancers	Placenta	Placenta
34	chr19:21786200-21787000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr19:21786200-21787000	Enhancers	Psoas Muscle	Psoas
36	chr19:21786200-21787000	Enhancers	Right Atrium	heart
37	chr19:21786200-21787000	Enhancers	Stomach Mucosa	stomach
38	chr19:21786200-21787200	Enhancers	Fetal Heart	heart
39	chr19:21786200-21787200	Enhancers	Gastric	stomach
40	chr19:21786200-21787800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:21786200-21787800	Enhancers	Spleen	Spleen
42	chr19:21786200-21788000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:21786200-21788200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr19:21786200-21788400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:21786400-21786800	Enhancers	Primary hematopoietic stem cells	blood
46	chr19:21786400-21786800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:21786400-21786800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr19:21786400-21786800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:21786400-21786800	Enhancers	Adipose Nuclei	Adipose
50	chr19:21786400-21786800	Flanking Bivalent TSS/Enh	HepG2	liver

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