Variant report

Variant	rs4808909
Chromosome Location	chr19:19153825-19153826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19142730..19148953-chr19:19149447..19156213,13	K562	blood:
2	chr19:19152497..19156413-chr19:19157001..19159635,3	K562	blood:
3	chr19:19148470..19151421-chr19:19152094..19154668,2	K562	blood:
4	chr19:19153804..19155400-chr19:19160958..19162912,2	K562	blood:
5	chr19:19151763..19153880-chr19:19157166..19159164,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105676	Chromatin interaction
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10164302	0.93[EUR][1000 genomes]
rs10221450	0.83[EUR][1000 genomes]
rs10221529	0.83[EUR][1000 genomes]
rs11549380	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28498174	0.95[EUR][1000 genomes]
rs4808171	0.95[EUR][1000 genomes]
rs4808178	0.95[EUR][1000 genomes]
rs4808180	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808181	0.83[EUR][1000 genomes]
rs4808896	0.95[EUR][1000 genomes]
rs4808897	0.95[EUR][1000 genomes]
rs4808899	0.95[EUR][1000 genomes]
rs4808910	0.90[EUR][1000 genomes]
rs4808912	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808914	0.92[EUR][1000 genomes]
rs4808915	0.92[EUR][1000 genomes]
rs4808921	0.83[EUR][1000 genomes]
rs4808922	0.83[EUR][1000 genomes]
rs55658345	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55678828	0.95[EUR][1000 genomes]
rs56141206	0.95[EUR][1000 genomes]
rs56144126	0.83[EUR][1000 genomes]
rs56227420	0.83[EUR][1000 genomes]
rs60489867	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60696741	0.92[EUR][1000 genomes]
rs72993458	0.83[EUR][1000 genomes]
rs72993462	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73004898	0.95[EUR][1000 genomes]
rs73004899	0.95[EUR][1000 genomes]
rs73006907	0.95[EUR][1000 genomes]
rs73006928	0.92[EUR][1000 genomes]
rs73008923	0.95[EUR][1000 genomes]
rs73008928	0.95[EUR][1000 genomes]
rs73008930	0.95[EUR][1000 genomes]
rs73008934	0.94[EUR][1000 genomes]
rs73008939	0.95[EUR][1000 genomes]
rs73008945	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73008949	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73008958	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73008960	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73010908	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19154800	Weak transcription	Aorta	Aorta
2	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
3	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
5	chr19:19145600-19154000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:19145600-19154600	Weak transcription	HUVEC	blood vessel
7	chr19:19145600-19154600	Weak transcription	NHDF-Ad	bronchial
8	chr19:19145600-19154800	Weak transcription	Brain Angular Gyrus	brain
9	chr19:19145600-19154800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:19145600-19159600	Weak transcription	NH-A	brain
11	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
12	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
14	chr19:19146200-19154000	Weak transcription	Left Ventricle	heart
15	chr19:19146600-19161800	Weak transcription	Psoas Muscle	Psoas
16	chr19:19148400-19161600	Weak transcription	Fetal Heart	heart
17	chr19:19149000-19154000	Weak transcription	HSMMtube	muscle
18	chr19:19149000-19154800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19149400-19154400	Weak transcription	Hela-S3	cervix
20	chr19:19149400-19164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:19150600-19154800	Weak transcription	HSMM	muscle
22	chr19:19151000-19154000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
24	chr19:19151200-19158000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:19151400-19162000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:19151800-19166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:19152000-19154600	Weak transcription	Fetal Lung	lung
30	chr19:19152000-19154600	Weak transcription	Osteobl	bone
31	chr19:19152000-19154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:19152000-19154800	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:19152200-19154000	Weak transcription	A549	lung
34	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:19152800-19161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:19153000-19156200	Strong transcription	Dnd41	blood
38	chr19:19153200-19154400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:19153200-19154800	Genic enhancers	Fetal Thymus	thymus
40	chr19:19153200-19155400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:19153200-19156000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:19153200-19158800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:19153200-19158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:19153200-19158800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr19:19153200-19158800	Strong transcription	Thymus	Thymus
46	chr19:19153200-19159000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:19153200-19160000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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