Variant report

Variant	rs5997924
Chromosome Location	chr22:31646222-31646223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31641781..31645850-chr22:31646160..31651289,6	K562	blood:
2	chr22:31627806..31629543-chr22:31645486..31647563,2	MCF-7	breast:
3	chr22:31643031..31646502-chr22:31653237..31655706,4	MCF-7	breast:
4	chr22:31642310..31646378-chr22:31653276..31655946,3	MCF-7	breast:
5	chr22:31555142..31556725-chr22:31643704..31646530,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138942	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000264141	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11089493	0.95[EUR][1000 genomes]
rs11089495	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11089496	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1123705	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556237	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703005	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11703576	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11704523	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989469	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985726	0.82[AMR][1000 genomes]
rs2057951	0.90[EUR][1000 genomes]
rs2899161	0.87[EUR][1000 genomes]
rs4293639	0.92[EUR][1000 genomes]
rs56292834	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57523999	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753523	0.98[EUR][1000 genomes]
rs5753554	0.89[EUR][1000 genomes]
rs5994386	0.92[EUR][1000 genomes]
rs5994387	0.92[EUR][1000 genomes]
rs5997917	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997921	0.93[EUR][1000 genomes]
rs5997930	0.83[AFR][1000 genomes]
rs5997942	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5997948	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5997956	0.92[EUR][1000 genomes]
rs5997959	0.88[EUR][1000 genomes]
rs5997965	0.86[EUR][1000 genomes]
rs60459126	0.82[EUR][1000 genomes]
rs713619	0.90[EUR][1000 genomes]
rs7285027	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7285716	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286926	0.86[EUR][1000 genomes]
rs739428	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8143159	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8595	1.00[ASN][1000 genomes]
rs9680708	0.90[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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr22:31641200-31646600	Weak transcription	A549	lung
2	chr22:31641400-31649600	Weak transcription	Hela-S3	cervix
3	chr22:31642800-31648200	Enhancers	Stomach Mucosa	stomach
4	chr22:31643800-31646600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:31644000-31646400	Active TSS	Brain Hippocampus Middle	brain
6	chr22:31644000-31647200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
7	chr22:31644200-31646400	Active TSS	Esophagus	oesophagus
8	chr22:31644200-31649800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:31644200-31665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:31644600-31646400	Weak transcription	Small Intestine	intestine
11	chr22:31644600-31647000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr22:31644600-31647600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr22:31644600-31647600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:31644600-31648200	Genic enhancers	Rectal Mucosa Donor 31	rectum
15	chr22:31644600-31649800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:31644600-31650400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr22:31644600-31654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr22:31644600-31654200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:31644600-31654400	Weak transcription	K562	blood
20	chr22:31644600-31658000	Weak transcription	Psoas Muscle	Psoas
21	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr22:31644800-31646600	Weak transcription	Primary B cells from cord blood	blood
23	chr22:31644800-31646800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:31644800-31649200	Weak transcription	Primary T cells from cord blood	blood
25	chr22:31644800-31649600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr22:31644800-31650000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:31644800-31650000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr22:31644800-31650200	Genic enhancers	HepG2	liver
29	chr22:31644800-31650800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr22:31644800-31654400	Weak transcription	Liver	Liver
31	chr22:31644800-31654800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:31645000-31646600	Enhancers	Right Ventricle	heart
33	chr22:31645000-31646600	Strong transcription	GM12878-XiMat	blood
34	chr22:31645000-31647000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr22:31645000-31647400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:31645000-31648000	Enhancers	Left Ventricle	heart
37	chr22:31645000-31650000	Weak transcription	Fetal Thymus	thymus
38	chr22:31645000-31654200	Weak transcription	Fetal Brain Female	brain
39	chr22:31645000-31654400	Weak transcription	Brain Germinal Matrix	brain
40	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:31645200-31646400	Weak transcription	Aorta	Aorta
44	chr22:31645200-31647000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr22:31645200-31647000	Enhancers	Right Atrium	heart
46	chr22:31645200-31647200	Enhancers	Adipose Nuclei	Adipose
47	chr22:31645200-31648000	Genic enhancers	Rectal Mucosa Donor 29	rectum
48	chr22:31645200-31648200	Transcr. at gene 5' and 3'	NHEK	skin
49	chr22:31645200-31654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr22:31645200-31654800	Weak transcription	Fetal Lung	lung

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