Variant report

Variant	rs12278517
Chromosome Location	chr11:46665061-46665062
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11038901	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11038916	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11038934	0.86[ASW][hapmap];0.96[LWK][hapmap];0.80[MKK][hapmap];1.00[AMR][1000 genomes]
rs11038967	0.83[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11819818	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821531	0.96[LWK][hapmap]
rs12276664	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs12278651	1.00[AMR][1000 genomes]
rs12285637	0.83[AMR][1000 genomes]
rs12290327	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12292399	1.00[YRI][hapmap]
rs3136452	0.86[ASW][hapmap];0.81[LWK][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3136455	0.86[ASW][hapmap];0.81[LWK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs3136483	1.00[AMR][1000 genomes]
rs7113194	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs7952678	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46640000-46670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:46640600-46667200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:46640600-46667200	Weak transcription	Psoas Muscle	Psoas
4	chr11:46640800-46670600	Weak transcription	Fetal Heart	heart
5	chr11:46640800-46670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:46640800-46673000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:46641400-46667400	Weak transcription	Esophagus	oesophagus
8	chr11:46641800-46680800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:46644600-46667400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:46644800-46666800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:46647200-46667400	Weak transcription	Pancreas	Pancrea
14	chr11:46647200-46670800	Weak transcription	Aorta	Aorta
15	chr11:46647400-46666600	Weak transcription	A549	lung
16	chr11:46647400-46670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:46647600-46667400	Weak transcription	Right Ventricle	heart
18	chr11:46647600-46670200	Weak transcription	NHLF	lung
19	chr11:46650800-46669600	Weak transcription	Right Atrium	heart
20	chr11:46652000-46667400	Weak transcription	Gastric	stomach
21	chr11:46652200-46666000	Weak transcription	Osteobl	bone
22	chr11:46652200-46678400	Weak transcription	Fetal Brain Male	brain
23	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:46652400-46667000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:46652400-46667200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:46652400-46667200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:46652400-46670800	Weak transcription	Fetal Kidney	kidney
28	chr11:46652600-46666800	Weak transcription	K562	blood
29	chr11:46652600-46667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:46652600-46667400	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:46653000-46666600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:46653200-46668600	Weak transcription	Colonic Mucosa	Colon
33	chr11:46653400-46666400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:46653400-46666600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:46653400-46666600	Weak transcription	NHDF-Ad	bronchial
36	chr11:46653400-46667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:46653800-46670800	Weak transcription	Small Intestine	intestine
38	chr11:46654200-46665800	Weak transcription	Ovary	ovary
39	chr11:46654200-46671800	Weak transcription	HMEC	breast
40	chr11:46654400-46665200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:46654400-46665800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:46654400-46666000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:46654400-46666200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:46654400-46667000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:46654400-46667200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:46654400-46667200	Weak transcription	HSMMtube	muscle
47	chr11:46654400-46667400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:46654400-46669200	Weak transcription	HUVEC	blood vessel
49	chr11:46654800-46666000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:46655400-46666800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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