Variant report

Variant	rs3741606
Chromosome Location	chr12:64383509-64383510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64383282..64387924-chr12:64391435..64393983,4	MCF-7	breast:
2	chr12:64383466..64385069-chr12:64386859..64389683,2	MCF-7	breast:
3	chr12:64368466..64371393-chr12:64380677..64383638,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10784375	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175227	0.96[ASN][1000 genomes]
rs1350138	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1350140	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054150	0.86[AFR][1000 genomes]
rs3741607	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4516056	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6581515	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6581517	0.97[ASN][1000 genomes]
rs7300256	0.81[EUR][1000 genomes]
rs7300468	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313754	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7957913	0.96[ASN][1000 genomes]
rs9668855	0.82[AMR][1000 genomes];0.94[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	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer 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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64362600-64385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
4	chr12:64364200-64385800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:64366400-64383600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:64370800-64384400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:64371800-64385800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:64375600-64384600	Weak transcription	Hela-S3	cervix
9	chr12:64375800-64385600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:64376200-64385000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:64377000-64385400	Weak transcription	Fetal Brain Male	brain
12	chr12:64377200-64400200	Weak transcription	Brain Germinal Matrix	brain
13	chr12:64377800-64396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:64378000-64395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:64379200-64386000	Weak transcription	Placenta	Placenta
16	chr12:64379800-64384400	Weak transcription	Ovary	ovary
17	chr12:64379800-64384600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:64379800-64385600	Weak transcription	Right Atrium	heart
19	chr12:64379800-64388400	Weak transcription	Fetal Brain Female	brain
20	chr12:64379800-64395200	Weak transcription	Fetal Intestine Small	intestine
21	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
22	chr12:64380400-64385800	Weak transcription	Pancreas	Pancrea
23	chr12:64381600-64386000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:64381600-64387000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:64381800-64383600	Enhancers	NHLF	lung
26	chr12:64381800-64384000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:64382000-64383600	Enhancers	A549	lung
28	chr12:64382000-64383600	Enhancers	Osteobl	bone
29	chr12:64382000-64383800	Enhancers	Brain Substantia Nigra	brain
30	chr12:64382000-64384000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:64382000-64387000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:64382000-64391200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:64382200-64384800	Enhancers	Rectal Smooth Muscle	rectum
34	chr12:64382200-64386600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:64382400-64385400	Enhancers	Fetal Stomach	stomach
36	chr12:64382400-64386800	Genic enhancers	NHDF-Ad	bronchial
37	chr12:64382600-64383800	Enhancers	Fetal Muscle Leg	muscle
38	chr12:64382600-64384000	Enhancers	Stomach Smooth Muscle	stomach
39	chr12:64382800-64383600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:64382800-64399400	Weak transcription	HUVEC	blood vessel
41	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:64383000-64383600	Genic enhancers	HSMM	muscle
43	chr12:64383000-64383800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:64383000-64383800	Enhancers	Stomach Mucosa	stomach
45	chr12:64383000-64384000	Enhancers	Fetal Heart	heart
46	chr12:64383000-64386800	Enhancers	Brain Hippocampus Middle	brain
47	chr12:64383000-64401200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:64383200-64383800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:64383200-64383800	Enhancers	Brain Anterior Caudate	brain
50	chr12:64383200-64383800	Enhancers	Brain Cingulate Gyrus	brain

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