Variant report

Variant	rs73193841
Chromosome Location	chr12:106480928-106480929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1064959	0.87[AMR][1000 genomes]
rs11112866	0.81[AMR][1000 genomes]
rs17038091	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896364	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3741884	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3782692	0.81[AMR][1000 genomes]
rs73193855	0.81[AMR][1000 genomes]
rs7485023	0.81[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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106458800-106500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:106461800-106499600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:106462400-106482600	Weak transcription	Esophagus	oesophagus
4	chr12:106465200-106487000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:106469000-106490200	Weak transcription	Gastric	stomach
6	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:106473000-106482000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:106474600-106484600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:106475000-106482400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:106475400-106482200	Weak transcription	Psoas Muscle	Psoas
11	chr12:106475800-106484200	Weak transcription	Hela-S3	cervix
12	chr12:106476600-106483200	Weak transcription	Fetal Brain Male	brain
13	chr12:106477000-106484400	Weak transcription	Lung	lung
14	chr12:106477000-106487200	Weak transcription	HepG2	liver
15	chr12:106477600-106492200	Weak transcription	Fetal Brain Female	brain
16	chr12:106477800-106484400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:106478200-106481600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:106478200-106482400	Weak transcription	Adipose Nuclei	Adipose
19	chr12:106478400-106481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:106478400-106482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:106478400-106482600	Weak transcription	Aorta	Aorta
22	chr12:106478400-106483000	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:106478400-106485800	Enhancers	Brain Hippocampus Middle	brain
24	chr12:106478400-106488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:106478400-106491600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:106478600-106481800	Weak transcription	Ovary	ovary
27	chr12:106478600-106481800	Weak transcription	HMEC	breast
28	chr12:106478600-106481800	Weak transcription	NHEK	skin
29	chr12:106478600-106482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:106478600-106492400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:106478800-106482600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:106478800-106487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:106478800-106491000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:106479000-106482400	Weak transcription	Fetal Lung	lung
35	chr12:106479000-106483200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:106479000-106489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:106479000-106490600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:106479200-106481200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:106479200-106481600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:106479200-106487200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:106479200-106490800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:106479200-106490800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:106479200-106491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:106479400-106481400	Weak transcription	Fetal Heart	heart
45	chr12:106479400-106482200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:106479400-106482400	Strong transcription	HSMMtube	muscle
47	chr12:106479400-106483200	Weak transcription	Osteobl	bone
48	chr12:106479400-106487200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:106479400-106488400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:106479400-106490800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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