Variant report

Variant	rs73072182
Chromosome Location	chr4:530676-530677
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	chr4:530653-530682	K562	blood:	n/a	n/a
2	POLR2A	chr4:529095-530839	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:525421..528276-chr4:528569..530910,3	K562	blood:

Variant related genes	Relation type
PIGG	TF binding region
ENSG00000174227	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11248024	1.00[ASN][1000 genomes]
rs11930567	0.84[ASN][1000 genomes]
rs11937981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61643877	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS 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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:494400-531000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:494400-533200	Strong transcription	Placenta	Placenta
3	chr4:494400-534600	Weak transcription	Fetal Heart	heart
4	chr4:494600-532000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:494600-533000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:494600-533200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:494600-533200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:495000-533000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:495200-533000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:495200-534000	Strong transcription	Fetal Stomach	stomach
11	chr4:496400-533000	Strong transcription	Fetal Brain Female	brain
12	chr4:496800-532000	Strong transcription	Dnd41	blood
13	chr4:503000-531600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:503200-530800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr4:503600-532000	Strong transcription	Primary T cells from cord blood	blood
16	chr4:503800-532800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:506400-533200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:506600-531800	Strong transcription	Thymus	Thymus
19	chr4:506600-532200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:506600-532800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:506600-533200	Strong transcription	Fetal Intestine Large	intestine
22	chr4:506600-533400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:506600-533600	Strong transcription	Liver	Liver
24	chr4:506800-532000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:506800-532600	Strong transcription	Aorta	Aorta
26	chr4:506800-533000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr4:506800-533200	Strong transcription	Fetal Muscle Leg	muscle
28	chr4:507200-533400	Strong transcription	Brain Anterior Caudate	brain
29	chr4:507400-533600	Strong transcription	Brain Hippocampus Middle	brain
30	chr4:507600-533200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:507600-533600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr4:508600-532000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:508600-532200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:508600-532800	Strong transcription	Fetal Intestine Small	intestine
35	chr4:510000-535400	Weak transcription	Hela-S3	cervix
36	chr4:510400-531800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:513400-533000	Strong transcription	Gastric	stomach
38	chr4:514000-530800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr4:514000-532000	Strong transcription	Right Ventricle	heart
40	chr4:514200-532000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:514200-532200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:514400-533200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:514400-533200	Strong transcription	Adipose Nuclei	Adipose
44	chr4:514400-533200	Strong transcription	Left Ventricle	heart
45	chr4:514400-533400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:514600-532600	Strong transcription	Brain Germinal Matrix	brain
47	chr4:514600-533000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:514600-533400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:514800-530800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr4:514800-531600	Strong transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links