Variant report

Variant	rs1814784
Chromosome Location	chr4:48521753-48521754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48520291..48522543-chr4:48541186..48543808,2	K562	blood:
2	chr4:48518871..48522013-chr4:48524395..48528257,3	K562	blood:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10517225	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11727472	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12498166	0.82[EUR][1000 genomes]
rs12506770	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12508327	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13110719	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13134960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16861344	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16861347	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1702795	0.90[AMR][1000 genomes]
rs1702800	0.83[AMR][1000 genomes]
rs1712762	0.82[AMR][1000 genomes]
rs17609740	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17609761	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17656189	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17656212	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17656255	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1850520	0.93[AMR][1000 genomes]
rs28581223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2945331	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3107023	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4235156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4610307	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4695388	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4695389	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55884608	0.93[AMR][1000 genomes]
rs57893769	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6447646	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6447648	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6825104	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs707719	0.86[AMR][1000 genomes]
rs73814782	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73814798	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73817807	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73817808	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73817809	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73817826	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73817827	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7690681	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7695730	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7695813	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs776582	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs776586	0.93[AMR][1000 genomes]
rs776593	0.93[AMR][1000 genomes]
rs776594	0.93[AMR][1000 genomes]
rs776596	0.93[AMR][1000 genomes]
rs776597	0.90[AMR][1000 genomes]
rs776598	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs776599	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs938790	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
2	chr4:48495400-48523000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:48499600-48581400	Strong transcription	Dnd41	blood
12	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:48501600-48523000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:48504600-48534400	Strong transcription	Liver	Liver
20	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:48505400-48538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:48505400-48540000	Strong transcription	HSMM	muscle
23	chr4:48506000-48538800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
25	chr4:48507400-48536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
27	chr4:48507800-48539400	Strong transcription	Primary B cells from cord blood	blood
28	chr4:48508800-48538800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr4:48509400-48540000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr4:48510600-48525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:48510600-48538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:48512200-48523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:48512200-48523200	Weak transcription	Fetal Heart	heart
34	chr4:48512200-48525600	Strong transcription	Brain Anterior Caudate	brain
35	chr4:48512200-48542400	Weak transcription	Stomach Mucosa	stomach
36	chr4:48512200-48545000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:48512400-48523000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:48512400-48533400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:48513000-48522000	Weak transcription	Small Intestine	intestine
40	chr4:48514200-48523000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:48514600-48523200	Weak transcription	Fetal Brain Male	brain
42	chr4:48514800-48523000	Weak transcription	Esophagus	oesophagus
43	chr4:48514800-48523200	Weak transcription	K562	blood
44	chr4:48514800-48523600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:48514800-48529600	Weak transcription	A549	lung
46	chr4:48515200-48522600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
48	chr4:48516000-48522000	Weak transcription	NHDF-Ad	bronchial
49	chr4:48516000-48522600	Weak transcription	HSMMtube	muscle
50	chr4:48517200-48522000	Weak transcription	Fetal Kidney	kidney

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