Variant report

Variant	rs11716614
Chromosome Location	chr3:49017208-49017209
allele	C/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	POLR2A	chr3:49016787-49017208	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:49017197-49017267	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49016659..49019581-chr3:49026960..49029253,3	MCF-7	breast:

Variant related genes	Relation type
ARIH2	TF binding region
ENSG00000223343	Chromatin interaction
ENSG00000178467	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1048940	0.87[AMR][1000 genomes]
rs1134043	0.85[CEU][hapmap]
rs11552724	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs11706052	0.92[CEU][hapmap];0.88[AMR][1000 genomes]
rs11706189	0.92[CEU][hapmap]
rs11712006	0.88[AMR][1000 genomes]
rs11713297	0.92[CEU][hapmap]
rs11713694	0.92[CEU][hapmap]
rs11718982	0.88[AMR][1000 genomes]
rs13072554	0.88[AMR][1000 genomes]
rs13080725	0.88[AMR][1000 genomes]
rs13086240	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs13087930	0.92[CEU][hapmap]
rs34037363	0.92[CEU][hapmap]
rs34504524	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34580506	0.92[CEU][hapmap];0.88[AMR][1000 genomes]
rs34889065	0.81[AMR][1000 genomes]
rs35102816	0.88[AMR][1000 genomes]
rs35108630	0.88[AMR][1000 genomes]
rs35283189	0.92[CEU][hapmap];0.88[AMR][1000 genomes]
rs35673421	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs3923475	0.88[AMR][1000 genomes]
rs5030795	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs55921200	0.88[AMR][1000 genomes]
rs56004653	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61729488	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71324929	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73080312	0.87[AMR][1000 genomes]
rs73080361	0.84[AMR][1000 genomes]
rs73082362	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9814987	0.92[CEU][hapmap]
rs9837237	0.92[CEU][hapmap]
rs9837625	0.92[CEU][hapmap]
rs9880088	0.92[CEU][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11716614	WDR6	cis	Whole Blood	GTEx
rs11716614	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs11716614	WDR6	cis	Esophagus Mucosa	GTEx
rs11716614	USP4	Cis_1M	lymphoblastoid	RTeQTL
rs11716614	WDR6	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48989800-49023600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:48990000-49024600	Strong transcription	Fetal Thymus	thymus
3	chr3:48994200-49023800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:48994400-49023600	Strong transcription	Dnd41	blood
5	chr3:48994800-49022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:48998800-49023400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:48999000-49021200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:48999000-49021600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:48999200-49022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:48999200-49022800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:48999400-49023600	Strong transcription	Primary T cells from cord blood	blood
12	chr3:48999400-49024400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:48999600-49021800	Strong transcription	Fetal Intestine Large	intestine
14	chr3:48999600-49024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:48999600-49024400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:48999600-49024600	Strong transcription	Fetal Stomach	stomach
17	chr3:48999600-49024800	Strong transcription	Fetal Intestine Small	intestine
18	chr3:49000000-49022800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:49001200-49023600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:49002000-49023800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:49002000-49024000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:49002000-49024000	Strong transcription	Liver	Liver
23	chr3:49002000-49024400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:49002000-49024600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:49002000-49024800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr3:49002200-49023200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:49002200-49023200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:49002200-49023400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:49002200-49023800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:49002200-49023800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:49002200-49023800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:49002200-49024400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:49002200-49024400	Strong transcription	Adipose Nuclei	Adipose
34	chr3:49002200-49024400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:49002200-49024400	Strong transcription	Thymus	Thymus
36	chr3:49002200-49024600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:49002400-49020200	Strong transcription	Left Ventricle	heart
38	chr3:49002400-49023200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:49002400-49024600	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:49002400-49024600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr3:49002400-49026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:49002400-49026600	Weak transcription	Right Atrium	heart
43	chr3:49002800-49023800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:49002800-49024600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr3:49003000-49024600	Strong transcription	Fetal Brain Female	brain
46	chr3:49003400-49023200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr3:49003600-49024200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:49003600-49024800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:49003800-49023400	Strong transcription	Colon Smooth Muscle	Colon
50	chr3:49003800-49024000	Strong transcription	H1 Cell Line	embryonic stem cell

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