Variant report

Variant	rs73321360
Chromosome Location	chr12:64524177-64524178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11831686	0.82[AFR][1000 genomes]
rs11832841	0.82[ASN][1000 genomes]
rs11835401	0.82[ASN][1000 genomes]
rs11835930	0.82[ASN][1000 genomes]
rs11838032	0.82[ASN][1000 genomes]
rs17100093	0.82[ASN][1000 genomes]
rs17100102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100105	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35994401	0.82[ASN][1000 genomes]
rs3803105	0.82[ASN][1000 genomes]
rs57729579	0.82[ASN][1000 genomes]
rs59228761	0.82[ASN][1000 genomes]
rs59329353	0.82[ASN][1000 genomes]
rs59776688	0.82[ASN][1000 genomes]
rs73321318	0.82[ASN][1000 genomes]
rs73321355	0.96[AFR][1000 genomes]
rs73321378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099279	0.82[ASN][1000 genomes]
rs74099280	0.82[ASN][1000 genomes]
rs74099281	0.82[ASN][1000 genomes]
rs789734	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs789735	0.90[EUR][1000 genomes];1.00[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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64487400-64526600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
3	chr12:64506600-64527000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:64506800-64527200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:64510600-64527200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:64511000-64530200	Weak transcription	Right Atrium	heart
7	chr12:64511200-64539400	Weak transcription	HepG2	liver
8	chr12:64514800-64535800	Weak transcription	Hela-S3	cervix
9	chr12:64518000-64527200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:64518400-64525400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:64519200-64527200	Strong transcription	A549	lung
12	chr12:64519600-64524400	Strong transcription	HSMMtube	muscle
13	chr12:64519600-64525600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:64519600-64525800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr12:64519600-64526600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:64519800-64525000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr12:64519800-64525200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:64519800-64529200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:64520000-64526000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:64520000-64526400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:64520000-64526600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:64520000-64527200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:64520200-64527200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:64520600-64525400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:64520600-64527200	Strong transcription	Fetal Brain Female	brain
26	chr12:64520800-64525200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:64520800-64526800	Strong transcription	Adipose Nuclei	Adipose
28	chr12:64520800-64527000	Strong transcription	Brain Anterior Caudate	brain
29	chr12:64520800-64527200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:64521000-64527400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:64521200-64525000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:64521200-64525200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:64521400-64524400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:64521400-64524600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:64521400-64524800	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:64521400-64525000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:64521400-64525000	Strong transcription	Left Ventricle	heart
38	chr12:64521400-64525200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:64521400-64525200	Strong transcription	Ovary	ovary
40	chr12:64521400-64525400	Strong transcription	Fetal Lung	lung
41	chr12:64521400-64525600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:64521400-64525800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:64521400-64526000	Strong transcription	Fetal Stomach	stomach
44	chr12:64521400-64526800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:64521400-64530800	Strong transcription	Fetal Intestine Large	intestine
46	chr12:64521800-64526800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:64522000-64526600	Weak transcription	Liver	Liver
48	chr12:64522000-64527000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:64522000-64527200	Weak transcription	Brain Substantia Nigra	brain
50	chr12:64522000-64527400	Weak transcription	Spleen	Spleen

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