Variant report

Variant	rs4820017
Chromosome Location	chr22:30981508-30981509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30973741..30976572-chr22:30980474..30983473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11912660	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12484511	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820879	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73881478	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73881482	0.94[AMR][1000 genomes];0.87[EUR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30970400-30983200	Weak transcription	Fetal Kidney	kidney
2	chr22:30971000-30985600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:30971000-30986000	Strong transcription	GM12878-XiMat	blood
4	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:30971200-30985200	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr22:30971200-30985200	Strong transcription	Dnd41	blood
7	chr22:30971200-30985400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:30971200-30985600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:30971200-30985600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:30971200-30985600	Strong transcription	Adipose Nuclei	Adipose
11	chr22:30971200-30986000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr22:30971400-30985000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:30971400-30985400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr22:30971400-30985600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:30971400-30985600	Strong transcription	Fetal Intestine Small	intestine
16	chr22:30971400-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:30971400-30986000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:30971400-30986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:30971600-30985400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr22:30971600-30985600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr22:30971600-30985600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:30971600-30985600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:30971600-30985600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:30971600-30985600	Strong transcription	Fetal Thymus	thymus
25	chr22:30971600-30985600	Strong transcription	NH-A	brain
26	chr22:30971600-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:30971600-30985800	Strong transcription	Fetal Intestine Large	intestine
28	chr22:30971600-30986000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:30971600-30986000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr22:30971600-30986000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:30971600-30986000	Strong transcription	Brain Germinal Matrix	brain
32	chr22:30971600-30986000	Strong transcription	Fetal Brain Female	brain
33	chr22:30971800-30985200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:30971800-30985400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr22:30971800-30985400	Strong transcription	Rectal Smooth Muscle	rectum
36	chr22:30971800-30985600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:30971800-30985600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:30971800-30985600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:30971800-30985600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:30971800-30985600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr22:30971800-30985800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr22:30971800-30986000	Strong transcription	Primary T cells from cord blood	blood
43	chr22:30972000-30981600	Strong transcription	Small Intestine	intestine
44	chr22:30972000-30984400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:30972000-30985400	Strong transcription	Colon Smooth Muscle	Colon
46	chr22:30972000-30985400	Strong transcription	Left Ventricle	heart
47	chr22:30972000-30985600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr22:30972000-30985600	Strong transcription	Aorta	Aorta
49	chr22:30972000-30986000	Strong transcription	NHLF	lung
50	chr22:30972200-30985400	Strong transcription	Fetal Lung	lung

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