Variant report

Variant	rs28427433
Chromosome Location	chr4:16172704-16172705
allele	C/T
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	chr4:16169893-16173611	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16172329..16174615-chr4:16176539..16178064,2	K562	blood:
2	chr4:16166003..16168530-chr4:16171156..16173085,3	K562	blood:

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1373109	0.82[AFR][1000 genomes]
rs1621739	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625980	0.86[ASN][1000 genomes]
rs1662651	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1662653	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893097	0.83[ASN][1000 genomes]
rs16893153	0.83[ASN][1000 genomes]
rs2011754	0.90[AFR][1000 genomes]
rs28395234	0.96[ASN][1000 genomes]
rs28496446	0.82[AFR][1000 genomes]
rs28619251	0.96[ASN][1000 genomes]
rs28726676	0.85[AFR][1000 genomes]
rs317852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs317861	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs317864	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35777961	0.89[EUR][1000 genomes]
rs4501221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635814	0.83[ASN][1000 genomes]
rs56106162	0.83[ASN][1000 genomes]
rs73234637	0.90[ASN][1000 genomes]
rs7359	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73798875	0.82[AFR][1000 genomes]
rs7668729	0.90[ASN][1000 genomes]
rs9946	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16157800-16180000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:16157800-16180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:16158000-16175400	Weak transcription	NHDF-Ad	bronchial
4	chr4:16160200-16173800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:16160400-16182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:16160800-16176800	Strong transcription	Primary B cells from cord blood	blood
7	chr4:16161000-16182600	Strong transcription	Fetal Thymus	thymus
8	chr4:16161600-16176200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:16161600-16181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:16161600-16182600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:16161600-16182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:16161600-16186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:16162000-16175800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:16162200-16182800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:16162600-16183200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr4:16163000-16172800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:16163000-16175600	Strong transcription	Primary T cells from cord blood	blood
19	chr4:16163000-16176400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:16163000-16182800	Strong transcription	Liver	Liver
21	chr4:16163000-16183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:16163000-16183200	Strong transcription	Placenta	Placenta
23	chr4:16163200-16178200	Weak transcription	Fetal Heart	heart
24	chr4:16163200-16183400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:16163200-16183400	Weak transcription	Hela-S3	cervix
26	chr4:16163200-16195800	Weak transcription	HMEC	breast
27	chr4:16163400-16176000	Strong transcription	Dnd41	blood
28	chr4:16163600-16173000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr4:16163600-16173400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:16163800-16173400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr4:16163800-16175000	Strong transcription	Thymus	Thymus
32	chr4:16163800-16175600	Strong transcription	Fetal Lung	lung
33	chr4:16163800-16176400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:16163800-16176400	Strong transcription	Fetal Muscle Leg	muscle
35	chr4:16163800-16178800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:16164000-16172800	Strong transcription	Fetal Intestine Large	intestine
37	chr4:16164000-16181800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:16164200-16183000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr4:16164400-16172800	Strong transcription	Ovary	ovary
40	chr4:16164400-16176800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:16164400-16181000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:16164400-16195000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:16164600-16172800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:16164600-16176400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:16164800-16183000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:16165000-16190800	Weak transcription	HUVEC	blood vessel
47	chr4:16165200-16175000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:16165600-16174200	Weak transcription	HSMM	muscle
49	chr4:16166800-16175800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:16167600-16173800	Strong transcription	HepG2	liver

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