Variant report

Variant	rs3741465
Chromosome Location	chr12:117464970-117464971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10507276	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10850736	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11608609	0.89[EUR][1000 genomes]
rs11608681	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11609741	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11609917	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11610984	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11614947	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12819203	0.93[CEU][hapmap]
rs17501253	0.86[CEU][hapmap]
rs6490100	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7301877	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7976384	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7978495	0.81[AMR][1000 genomes];0.90[EUR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
2	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:117452800-117465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
7	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:117453600-117470600	Weak transcription	Psoas Muscle	Psoas
9	chr12:117454800-117466600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:117454800-117468600	Strong transcription	Primary B cells from cord blood	blood
11	chr12:117456200-117466800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:117456600-117465400	Weak transcription	Aorta	Aorta
13	chr12:117456800-117468000	Strong transcription	Liver	Liver
14	chr12:117457200-117469200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:117457600-117469200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:117457800-117468200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr12:117458600-117469200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:117458800-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:117459600-117469200	Strong transcription	Osteobl	bone
20	chr12:117460800-117468000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:117461000-117465600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:117461000-117466400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr12:117461000-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:117461200-117467200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr12:117461200-117468200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:117461200-117469200	Strong transcription	Fetal Thymus	thymus
27	chr12:117461400-117466600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:117461400-117467400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:117461400-117468200	Strong transcription	HSMMtube	muscle
30	chr12:117461400-117468600	Strong transcription	Fetal Intestine Small	intestine
31	chr12:117461400-117468600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:117461400-117469200	Strong transcription	Lung	lung
33	chr12:117461600-117466800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:117461600-117467200	Strong transcription	Thymus	Thymus
35	chr12:117461600-117467400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:117461600-117468600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:117461600-117470600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:117461800-117466000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:117461800-117466400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:117461800-117466800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr12:117461800-117468200	Strong transcription	Fetal Brain Female	brain
42	chr12:117461800-117468400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:117461800-117469200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:117461800-117469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:117462000-117467200	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:117462200-117466800	Strong transcription	NHLF	lung
48	chr12:117462400-117467000	Strong transcription	NHDF-Ad	bronchial
49	chr12:117462400-117467200	Strong transcription	NHEK	skin
50	chr12:117463000-117466400	Genic enhancers	Right Ventricle	heart

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