Variant report

Variant	rs73310429
Chromosome Location	chr12:63052294-63052295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11835000	1.00[EUR][1000 genomes]
rs163681	1.00[EUR][1000 genomes]
rs73310406	1.00[EUR][1000 genomes]
rs73314554	1.00[AMR][1000 genomes]
rs73323250	1.00[EUR][1000 genomes]
rs73323292	1.00[EUR][1000 genomes]
rs73323300	1.00[EUR][1000 genomes]
rs73325240	1.00[EUR][1000 genomes]
rs74097040	1.00[EUR][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	nsv741	chr12:63038255-63064846	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
2	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
4	chr12:63041600-63053600	Weak transcription	Osteobl	bone
5	chr12:63045000-63053400	Weak transcription	Fetal Kidney	kidney
6	chr12:63045800-63054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:63046000-63054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:63047200-63054000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:63047400-63053800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:63047600-63054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:63047600-63058000	Weak transcription	A549	lung
12	chr12:63047800-63053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:63047800-63057200	Weak transcription	Lung	lung
14	chr12:63047800-63062000	Weak transcription	Stomach Mucosa	stomach
15	chr12:63047800-63069600	Weak transcription	Liver	Liver
16	chr12:63048000-63054000	Enhancers	Brain Substantia Nigra	brain
17	chr12:63049000-63054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:63049000-63069600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:63049000-63070000	Weak transcription	Gastric	stomach
20	chr12:63049200-63052400	Weak transcription	Aorta	Aorta
21	chr12:63049200-63052600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:63049200-63053000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:63049200-63054600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr12:63049200-63055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:63049200-63070000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:63049400-63057000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:63049600-63053000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:63049600-63055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:63049800-63052400	Weak transcription	Placenta	Placenta
30	chr12:63049800-63055000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:63049800-63055200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:63050000-63052800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:63050000-63070200	Weak transcription	Ovary	ovary
34	chr12:63050200-63052800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:63050200-63053600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:63050200-63054800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:63050600-63054000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr12:63050800-63066600	Weak transcription	Fetal Stomach	stomach
39	chr12:63051000-63052400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:63051000-63052400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:63051000-63052600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:63051000-63052600	Weak transcription	Brain Germinal Matrix	brain
43	chr12:63051000-63053200	Weak transcription	Fetal Brain Female	brain
44	chr12:63051200-63052400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:63051200-63052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:63051200-63052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:63051200-63069600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:63051400-63052400	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:63051400-63052400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:63051400-63052600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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