Variant report

Variant	rs1807711
Chromosome Location	chr22:30591169-30591170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:
2	chr22:30589990..30596479-chr22:30639909..30648381,15	MCF-7	breast:
3	chr22:30580247..30582662-chr22:30589957..30592306,3	K562	blood:
4	chr22:30578652..30582637-chr22:30590732..30593754,4	K562	blood:
5	chr22:30538829..30541820-chr22:30591024..30593094,2	K562	blood:
6	chr22:30584790..30588358-chr22:30588911..30595947,7	MCF-7	breast:
7	chr22:30587225..30588741-chr22:30589978..30592265,2	K562	blood:
8	chr22:30583139..30584831-chr22:30588932..30591308,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128342	Chromatin interaction
ENSG00000268812	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1468176	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1548389	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs193471	0.80[AMR][1000 genomes]
rs193474	0.80[AMR][1000 genomes]
rs193475	0.80[AMR][1000 genomes]
rs193476	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1989870	0.81[EUR][1000 genomes]
rs2412972	0.85[EUR][1000 genomes]
rs2412976	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41176	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4336042	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820827	0.81[EUR][1000 genomes]
rs4823076	0.83[EUR][1000 genomes]
rs5753025	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753037	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5763775	0.83[EUR][1000 genomes]
rs5763842	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7287570	0.84[EUR][1000 genomes]
rs73164755	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30577600-30591400	Enhancers	A549	lung
2	chr22:30579600-30591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30580200-30591400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30581200-30591400	Weak transcription	Gastric	stomach
5	chr22:30582200-30591400	Enhancers	HepG2	liver
6	chr22:30582800-30591200	Weak transcription	Stomach Mucosa	stomach
7	chr22:30582800-30591400	Weak transcription	Fetal Intestine Large	intestine
8	chr22:30583800-30592200	Weak transcription	Small Intestine	intestine
9	chr22:30584400-30591400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:30584400-30592000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:30584800-30591800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:30585000-30591800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:30585400-30591400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:30586400-30591600	Enhancers	Primary B cells from cord blood	blood
15	chr22:30587200-30591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:30587200-30591400	Weak transcription	Fetal Kidney	kidney
17	chr22:30587600-30591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:30587800-30591400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:30588000-30591600	Enhancers	HUVEC	blood vessel
20	chr22:30588200-30591400	Weak transcription	Fetal Intestine Small	intestine
21	chr22:30588200-30591400	Weak transcription	Lung	lung
22	chr22:30588200-30591600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr22:30588200-30593600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr22:30588400-30591400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:30588600-30591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:30588600-30592000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr22:30588600-30592000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr22:30588600-30592000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr22:30588600-30592200	Weak transcription	Thymus	Thymus
30	chr22:30588800-30591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:30588800-30591800	Weak transcription	Primary T cells from cord blood	blood
32	chr22:30588800-30591800	Weak transcription	Dnd41	blood
33	chr22:30589000-30591200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:30589000-30591200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr22:30589000-30591400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:30589000-30591400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:30589000-30591600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr22:30589000-30592000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:30589200-30591200	Weak transcription	Fetal Lung	lung
40	chr22:30589400-30591600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:30589400-30592000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr22:30589400-30592400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:30589600-30591200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:30589600-30591400	Enhancers	NHDF-Ad	bronchial
45	chr22:30589800-30591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:30589800-30591400	Weak transcription	Pancreas	Pancrea
47	chr22:30589800-30591400	Weak transcription	GM12878-XiMat	blood
48	chr22:30589800-30591800	Enhancers	HMEC	breast
49	chr22:30590000-30591200	Weak transcription	Fetal Stomach	stomach
50	chr22:30590000-30591400	Weak transcription	Placenta	Placenta

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