Variant report

Variant	rs11051006
Chromosome Location	chr12:30791510-30791511
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30787506..30790703-chr12:30791506..30796322,4	K562	blood:

Variant related genes	Relation type
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10743725	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10843794	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10843797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10843798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10843803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs10843805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11051009	0.91[ASN][1000 genomes]
rs11051023	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11051026	0.85[ASN][1000 genomes]
rs11051030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[ASN][1000 genomes]
rs11051034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs11051046	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12308822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs12315407	0.83[ASN][1000 genomes]
rs12315446	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12371883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12372023	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs3906774	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56003450	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56705455	0.83[ASN][1000 genomes]
rs59483134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6487924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6487929	0.85[ASN][1000 genomes]
rs6487931	0.85[ASN][1000 genomes]
rs7135005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7302501	1.00[AMR][1000 genomes]
rs7305665	1.00[AMR][1000 genomes]
rs7306125	1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs73292874	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs74083892	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7963438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7963524	0.85[ASN][1000 genomes]
rs7968760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9651844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
3	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
4	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
6	chr12:30775800-30813200	Weak transcription	HMEC	breast
7	chr12:30775800-30815200	Weak transcription	NHEK	skin
8	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:30779400-30796400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:30780200-30795000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:30780400-30796200	Weak transcription	Hela-S3	cervix
14	chr12:30780800-30792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:30780800-30793000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:30780800-30793000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:30780800-30793200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:30780800-30793200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:30781000-30792800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:30781000-30792800	Strong transcription	Primary T cells from cord blood	blood
22	chr12:30781000-30793000	Strong transcription	Liver	Liver
23	chr12:30781200-30792800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:30781200-30792800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:30781200-30792800	Strong transcription	Adipose Nuclei	Adipose
26	chr12:30781200-30792800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr12:30781200-30793000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:30781200-30793000	Strong transcription	Fetal Thymus	thymus
29	chr12:30781200-30793200	Strong transcription	Dnd41	blood
30	chr12:30781200-30797600	Strong transcription	Primary B cells from cord blood	blood
31	chr12:30781200-30806600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:30781400-30793200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:30781600-30792800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:30781600-30793200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:30781800-30796200	Weak transcription	NHLF	lung
36	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:30782200-30793600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:30782400-30814800	Weak transcription	Brain Angular Gyrus	brain
39	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
40	chr12:30783800-30792600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:30783800-30798400	Weak transcription	HepG2	liver
42	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
44	chr12:30784000-30803400	Weak transcription	HSMMtube	muscle
45	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:30784200-30792600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:30784200-30793000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:30784600-30803400	Weak transcription	K562	blood
49	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
50	chr12:30785000-30791800	Weak transcription	Colon Smooth Muscle	Colon

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