Variant report

Variant	rs11182971
Chromosome Location	chr12:45709114-45709115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45701919..45704723-chr12:45708246..45711469,3	K562	blood:
2	chr12:45702436..45704266-chr12:45707505..45709646,2	K562	blood:
3	chr12:45708234..45709954-chr12:45714015..45715994,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1004598	0.90[AMR][1000 genomes]
rs1015625	0.83[AMR][1000 genomes]
rs1019584	0.90[AMR][1000 genomes]
rs10467095	0.83[AMR][1000 genomes]
rs10748417	0.90[AMR][1000 genomes]
rs10748418	1.00[AMR][1000 genomes]
rs10748420	0.90[AMR][1000 genomes]
rs10785559	0.90[AMR][1000 genomes]
rs10785565	1.00[AMR][1000 genomes]
rs10785568	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10880767	0.80[AMR][1000 genomes]
rs10880773	0.90[AMR][1000 genomes]
rs11182980	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1238407	0.90[AMR][1000 genomes]
rs1862907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1877972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1896027	0.83[AMR][1000 genomes]
rs1913691	0.90[AMR][1000 genomes]
rs2037855	0.90[AMR][1000 genomes]
rs4140756	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4768087	0.83[AMR][1000 genomes]
rs4768604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4768606	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6582543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7135029	0.83[AMR][1000 genomes]
rs7304749	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7953360	1.00[AMR][1000 genomes]
rs7960422	0.90[AMR][1000 genomes]
rs7970250	0.90[AMR][1000 genomes]
rs7970619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
7	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
10	chr12:45693600-45730600	Weak transcription	NH-A	brain
11	chr12:45693800-45721800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:45696400-45736600	Weak transcription	HepG2	liver
14	chr12:45696800-45721800	Weak transcription	HMEC	breast
15	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
16	chr12:45698200-45710000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:45698800-45710000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:45698800-45726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:45698800-45726000	Weak transcription	Placenta	Placenta
20	chr12:45699000-45709600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:45699000-45710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:45699400-45725400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:45699800-45709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:45699800-45715800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:45700000-45743600	Weak transcription	Gastric	stomach
28	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:45702600-45709200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:45704200-45715400	Weak transcription	A549	lung
31	chr12:45704200-45721600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:45704400-45720000	Weak transcription	HSMMtube	muscle
33	chr12:45704400-45721800	Weak transcription	Liver	Liver
34	chr12:45704800-45710000	Weak transcription	Osteobl	bone
35	chr12:45704800-45715600	Weak transcription	Psoas Muscle	Psoas
36	chr12:45704800-45715800	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:45704800-45716200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:45704800-45725000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:45704800-45725400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:45705200-45709200	Weak transcription	Right Ventricle	heart
41	chr12:45705200-45720400	Weak transcription	Ovary	ovary
42	chr12:45705800-45710200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:45706400-45709200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:45706600-45710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:45706600-45732400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:45706800-45710400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:45707000-45709800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:45707000-45710000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:45707000-45710200	Strong transcription	Primary T cells from cord blood	blood
50	chr12:45707000-45710200	Strong transcription	Adipose Nuclei	Adipose

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