Variant report

Variant	rs1504783
Chromosome Location	chr4:151490829-151490830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151487701..151489848-chr4:151490418..151492175,2	K562	blood:
2	chr4:151469880..151472562-chr4:151490206..151492460,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10025414	0.87[LWK][hapmap];0.91[MKK][hapmap];0.81[YRI][hapmap]
rs10035076	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1032854	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1504784	0.89[AFR][1000 genomes]
rs1857751	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4401437	0.84[AFR][1000 genomes]
rs4696518	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7674861	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs952225	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9993148	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4547	chr4:151486280-151531479	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1504783	LRBA	Cis_1M	lymphoblastoid	RTeQTL
rs1504783	FGB	cis	cerebellum	SCAN
rs1504783	LRBA	cis	uninvolved skin	skin_eQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151470400-151503600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:151472000-151501400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:151472600-151500200	Weak transcription	Aorta	Aorta
4	chr4:151473400-151491200	Weak transcription	Ovary	ovary
5	chr4:151477200-151502400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:151479400-151500800	Weak transcription	Lung	lung
7	chr4:151479600-151501800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:151480600-151500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:151481200-151500400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:151482000-151491000	Weak transcription	Fetal Thymus	thymus
11	chr4:151486600-151493800	Weak transcription	Pancreas	Pancrea
12	chr4:151486600-151494000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:151486600-151494000	Weak transcription	Left Ventricle	heart
14	chr4:151486600-151499800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:151486600-151500000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:151486600-151500000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:151486600-151500200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:151486600-151500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:151486600-151503200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:151486600-151510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:151487000-151502400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:151487000-151503200	Weak transcription	Primary B cells from cord blood	blood
23	chr4:151487200-151494000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:151487400-151494200	Weak transcription	Fetal Intestine Large	intestine
26	chr4:151488400-151494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:151489600-151491600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:151489600-151492600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:151490000-151491600	Strong transcription	Primary T cells from cord blood	blood
30	chr4:151490000-151492400	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:151490000-151492800	Enhancers	Colon Smooth Muscle	Colon
32	chr4:151490200-151491200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:151490200-151491600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:151490200-151491800	Enhancers	Osteobl	bone
35	chr4:151490200-151493400	Enhancers	K562	blood
36	chr4:151490400-151491000	Active TSS	A549	lung
37	chr4:151490400-151491200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:151490400-151492400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:151490400-151494000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:151490600-151491000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:151490600-151491000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:151490600-151491000	Enhancers	NHDF-Ad	bronchial
43	chr4:151490600-151491200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:151490600-151491200	Enhancers	NH-A	brain
45	chr4:151490600-151491600	Enhancers	HSMM	muscle
46	chr4:151490600-151491800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:151490800-151494000	Weak transcription	Gastric	stomach
48	chr4:151490800-151499000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:151490800-151503800	Weak transcription	HMEC	breast

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