Variant report

Variant	rs2348686
Chromosome Location	chr22:30037315-30037316
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30019747..30021747-chr22:30036683..30039570,2	MCF-7	breast:
2	chr22:30036794..30038709-chr22:30046357..30049323,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11090572	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11704455	0.87[AFR][1000 genomes]
rs12165952	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13054076	0.90[EUR][1000 genomes]
rs1800539	0.86[EUR][1000 genomes]
rs2158619	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2245194	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2527334	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2527335	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2530662	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2530685	0.83[AFR][1000 genomes]
rs2857638	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2857643	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2857647	0.81[EUR][1000 genomes]
rs2857652	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4823049	0.85[EUR][1000 genomes]
rs56246484	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5752946	0.86[EUR][1000 genomes]
rs5763354	0.85[EUR][1000 genomes]
rs5763378	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62227968	0.87[EUR][1000 genomes]
rs6519793	1.00[CEU][hapmap]
rs731647	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs756053	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8140060	0.96[CEU][hapmap]
rs9625841	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30014400-30085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30018000-30069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:30020200-30057000	Weak transcription	Psoas Muscle	Psoas
4	chr22:30020200-30064200	Weak transcription	Small Intestine	intestine
5	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
6	chr22:30021800-30041600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:30022000-30038400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:30022200-30053400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:30023000-30037400	Weak transcription	Hela-S3	cervix
10	chr22:30023200-30038600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:30023600-30037800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:30023800-30038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:30023800-30038600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:30024000-30037400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:30024200-30038200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:30026400-30038000	Weak transcription	Brain Angular Gyrus	brain
17	chr22:30026800-30038200	Weak transcription	Spleen	Spleen
18	chr22:30026800-30055800	Weak transcription	Gastric	stomach
19	chr22:30027200-30044400	Weak transcription	Brain Substantia Nigra	brain
20	chr22:30027400-30038000	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:30027600-30038200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:30027600-30057200	Weak transcription	Brain Hippocampus Middle	brain
23	chr22:30027800-30056000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr22:30028400-30037600	Weak transcription	Fetal Intestine Large	intestine
25	chr22:30028400-30044400	Weak transcription	Pancreas	Pancrea
26	chr22:30028800-30037400	Weak transcription	HepG2	liver
27	chr22:30029600-30053800	Weak transcription	Esophagus	oesophagus
28	chr22:30030000-30038400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr22:30030400-30038000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:30031200-30037600	Weak transcription	A549	lung
31	chr22:30032200-30047000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:30032200-30057000	Weak transcription	Colonic Mucosa	Colon
33	chr22:30032200-30070000	Weak transcription	Fetal Brain Male	brain
34	chr22:30032400-30039200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:30032400-30039400	Strong transcription	Primary T cells from cord blood	blood
36	chr22:30032600-30039200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:30032800-30037800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr22:30032800-30039200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr22:30032800-30039400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:30033000-30039000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:30033000-30039000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr22:30033000-30039000	Strong transcription	NHEK	skin
43	chr22:30033000-30053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:30033200-30037800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr22:30033200-30038200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:30033200-30038200	Weak transcription	Brain Germinal Matrix	brain
47	chr22:30033400-30039000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:30033400-30039000	Strong transcription	NH-A	brain
49	chr22:30033400-30039600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:30033600-30037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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