Variant report

Variant	rs4808951
Chromosome Location	chr19:19550306-19550307
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19488930..19490587-chr19:19548846..19551529,2	K562	blood:
2	chr19:19543861..19547049-chr19:19547562..19550804,4	MCF-7	breast:
3	chr19:19523469..19525649-chr19:19548128..19551006,2	K562	blood:

Variant related genes	Relation type
ENSG00000207821	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1036215	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10406278	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10407933	0.82[CEU][hapmap]
rs10423874	0.87[CEU][hapmap]
rs1064395	0.81[CEU][hapmap]
rs11085264	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11555053	0.81[CEU][hapmap]
rs11668203	0.99[EUR][1000 genomes]
rs11669558	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11669730	0.88[CEU][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11670687	0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11670761	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11670775	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11670882	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11671253	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1529745	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1560687	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16996127	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17216041	0.81[CEU][hapmap]
rs17684164	1.00[CEU][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17751061	0.88[CEU][hapmap]
rs2010506	0.89[YRI][hapmap]
rs2011503	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs2060274	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2060275	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2860494	0.81[EUR][1000 genomes]
rs2905429	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2905433	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2905434	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2916070	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2916072	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2916075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2965178	0.82[EUR][1000 genomes]
rs2965179	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2965181	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2965184	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2965186	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2965187	0.87[AFR][1000 genomes]
rs2965190	0.83[CEU][hapmap]
rs2965195	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2965201	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34487417	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34667451	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45556231	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs45631651	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4808204	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4808205	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4808206	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4808934	0.81[CEU][hapmap]
rs4808958	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4808962	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4808968	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4808969	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4808970	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55927782	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56280531	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56291054	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56330647	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58074958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61744761	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6511027	0.81[CEU][hapmap]
rs7245689	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7250233	1.00[CEU][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7252453	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs7256028	0.89[EUR][1000 genomes]
rs751857	0.95[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs754256	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs756997	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs8100927	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8101219	0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8102502	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs8105642	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8110171	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8110250	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8111093	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs998732	0.81[CEU][hapmap]

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	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4808951	SF4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19522200-19563400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:19538200-19554800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:19538400-19555000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:19538400-19555200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:19538400-19555800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:19538400-19556800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:19538400-19556800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:19539800-19555000	Weak transcription	Stomach Mucosa	stomach
9	chr19:19540200-19555400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:19540200-19562600	Weak transcription	Fetal Intestine Large	intestine
11	chr19:19543400-19550800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:19544000-19551000	Strong transcription	Dnd41	blood
13	chr19:19544200-19555800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:19544400-19563400	Weak transcription	Fetal Kidney	kidney
15	chr19:19544600-19550400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:19545000-19550400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:19545200-19550400	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr19:19545200-19550400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr19:19545400-19552200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:19545400-19556000	Strong transcription	Fetal Intestine Small	intestine
21	chr19:19545400-19562200	Weak transcription	Brain Angular Gyrus	brain
22	chr19:19545600-19553800	Weak transcription	Placenta	Placenta
23	chr19:19545600-19554800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:19545600-19568600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:19545800-19553400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:19545800-19554600	Weak transcription	HUVEC	blood vessel
27	chr19:19545800-19555200	Weak transcription	Aorta	Aorta
28	chr19:19545800-19555400	Weak transcription	Osteobl	bone
29	chr19:19545800-19558200	Weak transcription	Fetal Lung	lung
30	chr19:19545800-19558400	Weak transcription	HSMMtube	muscle
31	chr19:19545800-19563400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:19545800-19568600	Weak transcription	Brain Substantia Nigra	brain
33	chr19:19545800-19570600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:19546000-19553600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:19546000-19555000	Weak transcription	Adipose Nuclei	Adipose
36	chr19:19546000-19555800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:19546000-19558200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr19:19546000-19558600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:19546000-19566600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:19546200-19554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:19546200-19555200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:19546200-19555400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:19546200-19569000	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:19546800-19550400	Strong transcription	Fetal Stomach	stomach
45	chr19:19546800-19550800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr19:19547000-19553200	Weak transcription	K562	blood
47	chr19:19547200-19553800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:19547200-19555000	Weak transcription	NHDF-Ad	bronchial
49	chr19:19547400-19553600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:19547400-19553600	Weak transcription	Pancreas	Pancrea

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