Variant report

Variant	rs4808921
Chromosome Location	chr19:19221846-19221847
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19221369..19226288-chr19:19228208..19232737,8	K562	blood:
2	chr19:19220206..19222011-chr19:19247982..19249559,2	K562	blood:
3	chr19:19191060..19192627-chr19:19221206..19223670,2	K562	blood:
4	chr19:19221106..19223983-chr19:19247665..19249535,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.85[EUR][1000 genomes]
rs10221450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10221529	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11549380	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28498174	0.87[EUR][1000 genomes]
rs4808171	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4808178	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4808180	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808181	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808896	0.87[EUR][1000 genomes]
rs4808897	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4808899	0.87[EUR][1000 genomes]
rs4808909	0.83[EUR][1000 genomes]
rs4808910	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808912	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808914	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808915	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808922	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658345	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55678828	0.87[EUR][1000 genomes]
rs56141206	0.87[EUR][1000 genomes]
rs56144126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56159042	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56227420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60489867	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60696741	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993462	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73004898	0.87[EUR][1000 genomes]
rs73004899	0.87[EUR][1000 genomes]
rs73006907	0.87[EUR][1000 genomes]
rs73006928	0.87[EUR][1000 genomes]
rs73008923	0.87[EUR][1000 genomes]
rs73008928	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008930	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008934	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73008939	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008945	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008949	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008958	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008960	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73010908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:19194600-19229400	Weak transcription	Dnd41	blood
4	chr19:19197400-19222600	Weak transcription	GM12878-XiMat	blood
5	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:19209000-19223600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:19212600-19229600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
11	chr19:19216600-19223200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
13	chr19:19217200-19224000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
15	chr19:19217400-19224000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:19217400-19229400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:19217400-19229600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:19217400-19229600	Weak transcription	NHLF	lung
19	chr19:19219000-19223600	Weak transcription	K562	blood
20	chr19:19219200-19229400	Weak transcription	Pancreas	Pancrea
21	chr19:19219400-19229400	Weak transcription	Lung	lung
22	chr19:19219400-19229600	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:19219400-19229600	Weak transcription	Left Ventricle	heart
24	chr19:19219800-19229400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:19219800-19230000	Weak transcription	Brain Substantia Nigra	brain
26	chr19:19220000-19222000	Enhancers	Ovary	ovary
27	chr19:19220200-19224800	Enhancers	Fetal Muscle Leg	muscle
28	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
29	chr19:19220600-19222000	Enhancers	Fetal Brain Male	brain
30	chr19:19220600-19222400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr19:19220600-19222800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr19:19220800-19222000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr19:19220800-19223800	Weak transcription	HepG2	liver
34	chr19:19220800-19223800	Weak transcription	HSMM	muscle
35	chr19:19220800-19242800	Weak transcription	Osteobl	bone
36	chr19:19221000-19222000	Enhancers	Fetal Thymus	thymus
37	chr19:19221000-19222400	Enhancers	Placenta	Placenta
38	chr19:19221000-19223000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:19221000-19224200	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:19221200-19222000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr19:19221200-19222000	Enhancers	Colonic Mucosa	Colon
42	chr19:19221200-19222000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr19:19221200-19222200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:19221200-19222400	Enhancers	Gastric	stomach
45	chr19:19221200-19223200	Enhancers	Adipose Nuclei	Adipose
46	chr19:19221200-19224000	Enhancers	Fetal Lung	lung
47	chr19:19221400-19222000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr19:19221400-19222000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:19221400-19222000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr19:19221400-19222000	Enhancers	Primary hematopoietic stem cells	blood

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