Variant report

Variant	rs28483204
Chromosome Location	chr4:16205098-16205099
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	chr4:16204614-16205293	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16204454..16206531-chr4:16228062..16230411,2	MCF-7	breast:
2	chr4:16204628..16208605-chr4:16216498..16220405,4	K562	blood:

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10004142	0.88[AFR][1000 genomes]
rs10014098	0.96[AFR][1000 genomes]
rs10033234	0.96[AFR][1000 genomes]
rs16893097	0.88[EUR][1000 genomes]
rs16893153	0.93[EUR][1000 genomes]
rs28395234	0.91[EUR][1000 genomes]
rs28418606	0.96[AFR][1000 genomes]
rs28516589	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525607	0.96[AFR][1000 genomes]
rs28545799	0.96[AFR][1000 genomes]
rs28619251	0.93[EUR][1000 genomes]
rs28634046	0.96[AFR][1000 genomes]
rs28670993	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35777961	0.90[ASN][1000 genomes]
rs4635814	0.87[EUR][1000 genomes]
rs55949632	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106162	0.84[EUR][1000 genomes]
rs6847134	0.96[AFR][1000 genomes]
rs73234625	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234629	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234637	0.95[EUR][1000 genomes]
rs73234642	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234644	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234648	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234651	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234656	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234660	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234667	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234668	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73802010	0.96[AFR][1000 genomes]
rs7668729	0.95[EUR][1000 genomes]
rs9946	0.92[EUR][1000 genomes]
rs9996261	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999457	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
6	chr4:16191400-16207000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:16193000-16207600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:16193000-16208200	Weak transcription	Esophagus	oesophagus
9	chr4:16193000-16216000	Weak transcription	Spleen	Spleen
10	chr4:16193000-16225800	Weak transcription	Colonic Mucosa	Colon
11	chr4:16193200-16205800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:16193200-16206800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:16193200-16207000	Weak transcription	Pancreas	Pancrea
14	chr4:16193200-16208000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:16193200-16208000	Weak transcription	Lung	lung
16	chr4:16193200-16225800	Weak transcription	Fetal Brain Female	brain
17	chr4:16193400-16211200	Weak transcription	Placenta	Placenta
18	chr4:16193600-16208600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:16193800-16206400	Weak transcription	K562	blood
20	chr4:16195400-16207000	Weak transcription	Gastric	stomach
21	chr4:16196200-16207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:16198600-16207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:16198600-16211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:16198600-16216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:16198600-16221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:16198600-16222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:16198800-16205600	Weak transcription	GM12878-XiMat	blood
28	chr4:16198800-16206200	Weak transcription	Psoas Muscle	Psoas
29	chr4:16198800-16211400	Weak transcription	Aorta	Aorta
30	chr4:16198800-16218800	Weak transcription	HSMM	muscle
31	chr4:16198800-16225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:16198800-16226000	Weak transcription	NHEK	skin
33	chr4:16198800-16226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:16199000-16205200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:16199000-16206200	Weak transcription	Right Atrium	heart
36	chr4:16199000-16206200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:16199800-16205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:16199800-16207000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:16199800-16207000	Weak transcription	Fetal Kidney	kidney
40	chr4:16199800-16208000	Weak transcription	Small Intestine	intestine
41	chr4:16199800-16209800	Weak transcription	NHLF	lung
42	chr4:16199800-16215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:16200000-16206200	Weak transcription	Right Ventricle	heart
44	chr4:16200000-16206200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:16200000-16208600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:16200000-16214200	Weak transcription	Fetal Heart	heart
47	chr4:16200200-16209000	Weak transcription	NHDF-Ad	bronchial
48	chr4:16200400-16206800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:16200600-16207600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:16200800-16213600	Weak transcription	HUVEC	blood vessel

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