Variant report

Variant	rs7721819
Chromosome Location	chr5:89820244-89820245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:89819508-89820322	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89768184..89771456-chr5:89815770..89820278,7	K562	blood:
2	chr5:89705158..89707867-chr5:89818448..89821040,2	K562	blood:
3	chr5:89765101..89767054-chr5:89819920..89822582,2	K562	blood:
4	chr5:89723104..89725297-chr5:89818896..89821836,2	K562	blood:
5	chr5:89703484..89707867-chr5:89816969..89821040,4	K562	blood:
6	chr5:89772669..89774767-chr5:89820227..89822408,2	K562	blood:
7	chr5:89818873..89823263-chr5:89823614..89827101,4	MCF-7	breast:

No data

Variant related genes	Relation type
GPR98	TF binding region
ENSG00000176018	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000153140	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16868636	1.00[EUR][1000 genomes]
rs16868773	1.00[EUR][1000 genomes]
rs16868780	1.00[EUR][1000 genomes]
rs16868793	1.00[EUR][1000 genomes]
rs16868831	1.00[EUR][1000 genomes]
rs16868887	1.00[EUR][1000 genomes]
rs16868956	1.00[EUR][1000 genomes]
rs16868998	1.00[EUR][1000 genomes]
rs16869002	1.00[EUR][1000 genomes]
rs16869055	1.00[EUR][1000 genomes]
rs6452889	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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 miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 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	chr5:89773800-89824400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:89780600-89822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:89793800-89823400	Weak transcription	Hela-S3	cervix
4	chr5:89797600-89824200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:89802600-89824600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:89805600-89823200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:89808800-89822000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:89809000-89824000	Weak transcription	Right Ventricle	heart
9	chr5:89809000-89824400	Weak transcription	Psoas Muscle	Psoas
10	chr5:89809200-89824600	Weak transcription	Spleen	Spleen
11	chr5:89809600-89822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:89810000-89822200	Weak transcription	Fetal Heart	heart
13	chr5:89810000-89822400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:89810200-89822000	Weak transcription	Stomach Mucosa	stomach
15	chr5:89810400-89822000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:89810400-89822800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:89810600-89824400	Weak transcription	Lung	lung
18	chr5:89810800-89824400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:89810800-89824400	Weak transcription	Esophagus	oesophagus
20	chr5:89811000-89820400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:89811000-89824000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:89811000-89824400	Weak transcription	Pancreas	Pancrea
23	chr5:89811400-89821200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:89812000-89821000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:89812000-89821200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:89812200-89822000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:89812600-89822400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:89813000-89823400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:89813400-89821200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:89813400-89821200	Strong transcription	Fetal Intestine Large	intestine
31	chr5:89813400-89821600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:89813400-89822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:89813400-89822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:89813400-89824200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:89813400-89824400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:89813600-89821800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:89813600-89823400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:89813800-89821200	Strong transcription	Primary B cells from cord blood	blood
39	chr5:89813800-89821200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:89813800-89821200	Strong transcription	Liver	Liver
41	chr5:89813800-89821200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr5:89814000-89821200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:89814000-89821200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:89814000-89822000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:89814200-89822600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:89814400-89821000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:89814400-89821200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:89814400-89821200	Strong transcription	Fetal Thymus	thymus
49	chr5:89814400-89821400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:89814600-89821200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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