Variant report

Variant	rs73117071
Chromosome Location	chr12:41582272-41582273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11392694	1.00[AFR][1000 genomes]
rs11830850	0.90[AFR][1000 genomes]
rs11835868	0.93[AFR][1000 genomes]
rs1431120	0.82[AFR][1000 genomes]
rs17128995	1.00[AMR][1000 genomes]
rs17129040	1.00[AMR][1000 genomes]
rs17129118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129138	0.97[AFR][1000 genomes]
rs17129140	0.90[AFR][1000 genomes]
rs57259770	0.92[AFR][1000 genomes]
rs58479177	0.90[AFR][1000 genomes]
rs58686550	0.88[AFR][1000 genomes]
rs58695957	0.90[AFR][1000 genomes]
rs59215090	0.88[AFR][1000 genomes]
rs59820351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60911583	1.00[AMR][1000 genomes]
rs73117069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119031	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119042	0.95[AFR][1000 genomes]
rs73119065	0.90[AFR][1000 genomes]
rs73122707	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41581200-41585200	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:41581400-41584400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:41581600-41583600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:41581600-41583800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:41581600-41584200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:41581600-41584400	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
8	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
12	chr12:41581800-41582600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:41581800-41582600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:41581800-41582600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:41581800-41582600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:41581800-41582800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:41581800-41582800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:41581800-41583000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:41581800-41583000	Active TSS	Brain Hippocampus Middle	brain
20	chr12:41581800-41583000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:41581800-41583000	Bivalent Enhancer	Fetal Brain Male	brain
22	chr12:41581800-41583400	Active TSS	Brain Anterior Caudate	brain
23	chr12:41581800-41583800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:41581800-41584000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:41581800-41584200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr12:41581800-41584200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:41581800-41584400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:41581800-41584600	Active TSS	Brain Substantia Nigra	brain
29	chr12:41581800-41585200	Active TSS	Colon Smooth Muscle	Colon
30	chr12:41582000-41582400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:41582000-41582400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:41582000-41582400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr12:41582000-41582400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:41582000-41582600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr12:41582000-41582600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:41582000-41582600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:41582000-41582600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:41582000-41582800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:41582000-41582800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr12:41582000-41583000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:41582000-41583000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:41582000-41583200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr12:41582000-41583200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr12:41582000-41583600	Bivalent/Poised TSS	A549	lung
45	chr12:41582000-41583800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:41582000-41583800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:41582000-41583800	Active TSS	Brain Cingulate Gyrus	brain
48	chr12:41582000-41584000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:41582000-41584000	Bivalent/Poised TSS	Colonic Mucosa	Colon
50	chr12:41582000-41584200	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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