Variant report

Variant	rs10021919
Chromosome Location	chr4:48158269-48158270
allele	A/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	chr4:48158230-48158387	GM12878	blood:	n/a	n/a
2	KAP1	chr4:48157580-48158550	K562	blood:	n/a	n/a

Variant related genes	Relation type
TEC	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10016563	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs10033663	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1159075	0.94[JPT][hapmap]
rs11942525	1.00[JPT][hapmap]
rs16861044	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16861106	1.00[JPT][hapmap]
rs16861108	1.00[JPT][hapmap]
rs17470919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471024	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17471142	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17574399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661532	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2661535	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28408546	0.87[ASN][1000 genomes]
rs28538414	0.87[ASN][1000 genomes]
rs28702422	0.97[EUR][1000 genomes]
rs3749503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792619	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55683170	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55809586	0.89[EUR][1000 genomes]
rs6814046	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6814614	0.90[EUR][1000 genomes]
rs6819804	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6829390	0.88[JPT][hapmap]
rs73244489	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654182	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7682890	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684558	0.92[EUR][1000 genomes]
rs955692	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs996223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991974	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48139200-48159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:48150000-48164000	Weak transcription	Hela-S3	cervix
3	chr4:48152600-48163200	Weak transcription	HSMMtube	muscle
4	chr4:48152600-48164000	Weak transcription	HSMM	muscle
5	chr4:48153000-48160400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr4:48155200-48158800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
7	chr4:48155200-48159400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:48155400-48158600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr4:48155400-48159600	ZNF genes & repeats	GM12878-XiMat	blood
10	chr4:48155400-48160000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:48155600-48158400	ZNF genes & repeats	Psoas Muscle	Psoas
12	chr4:48155800-48158400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
13	chr4:48155800-48158400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr4:48155800-48158400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr4:48155800-48158400	ZNF genes & repeats	K562	blood
16	chr4:48155800-48158800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr4:48155800-48158800	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr4:48155800-48158800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:48155800-48159400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:48156000-48159600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr4:48156000-48168000	Weak transcription	Esophagus	oesophagus
22	chr4:48156800-48158400	Strong transcription	Rectal Smooth Muscle	rectum
23	chr4:48156800-48158600	Strong transcription	Liver	Liver
24	chr4:48157000-48158400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:48157000-48158400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr4:48157000-48158600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr4:48157000-48158800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:48157200-48158400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:48157200-48158400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:48157200-48158400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:48157200-48158400	ZNF genes & repeats	Fetal Lung	lung
32	chr4:48157200-48158400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr4:48157200-48158600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr4:48157200-48158600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr4:48157400-48158400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr4:48157400-48158400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr4:48157400-48158400	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr4:48157400-48158400	ZNF genes & repeats	Aorta	Aorta
39	chr4:48157400-48158400	Strong transcription	Left Ventricle	heart
40	chr4:48157400-48158600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr4:48157600-48158400	Strong transcription	Colonic Mucosa	Colon
42	chr4:48157600-48158400	ZNF genes & repeats	Gastric	stomach
43	chr4:48157600-48158800	Strong transcription	Fetal Thymus	thymus
44	chr4:48157800-48158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
47	chr4:48158000-48158400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:48158200-48158400	ZNF genes & repeats	Spleen	Spleen
49	chr4:48158200-48158600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:48158200-48158800	Strong transcription	Fetal Intestine Large	intestine

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